ClinVar

NM_015865.7(SLC14A1):c.28G>A (p.Val10Met)

Gene:

SLC14A1:solute carrier family 14 member 1 (Kidd blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.3

Genomic location:

• Chr18: 45730348 (on Assembly GRCh38)
• Chr18: 43310313 (on Assembly GRCh37)

Preferred name:

NM_015865.7(SLC14A1):c.28G>A (p.Val10Met)

HGVS:

• NC_000018.10:g.45730348G>A
• NG_011775.3:g.11222G>A
• NG_011775.4:g.48324G>A
• NM_001128588.4:c.196G>A
• NM_001146036.3:c.28G>A
• NM_001146037.1:c.196G>A
• NM_001308278.2:c.-164-667G>A
• NM_001308279.2:c.-55-3926G>A
• NM_015865.7:c.28G>AMANE SELECT
• NP_001122060.3:p.Val66Met
• NP_001139508.2:p.Val10Met
• NP_001139509.1:p.Val66Met
• NP_056949.4:p.Val10Met
• LRG_802t1:c.28G>A
• LRG_802:g.48324G>A
• LRG_802p1:p.Val10Met
• NC_000018.9:g.43310313G>A
• NM_015865.6:c.28G>A

This HGVS expression did not pass validation

Protein change:

V10M

Links:

dbSNP: rs113578396

NCBI 1000 Genomes Browser:

rs113578396

Molecular consequence:

• NM_001308278.2:c.-164-667G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308279.2:c.-55-3926G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001128588.4:c.196G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146036.3:c.28G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146037.1:c.196G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015865.7:c.28G>A - missense variant - [Sequence Ontology: SO:0001583]