ClinVar

NM_020297.4(ABCC9):c.2857G>A (p.Glu953Lys)

Gene:

ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21848159 (on Assembly GRCh38)
• Chr12: 22001093 (on Assembly GRCh37)

Preferred name:

NM_020297.4(ABCC9):c.2857G>A (p.Glu953Lys)

HGVS:

• NC_000012.12:g.21848159C>T
• NG_012819.1:g.93536G>A
• NM_001377273.1:c.2857G>A
• NM_001377274.1:c.1990G>A
• NM_005691.4:c.2857G>A
• NM_020297.2:c.2857G>A
• NM_020297.4:c.2857G>AMANE SELECT
• NP_001364202.1:p.Glu953Lys
• NP_001364203.1:p.Glu664Lys
• NP_005682.2:p.Glu953Lys
• NP_005682.2:p.Glu953Lys
• NP_064693.2:p.Glu953Lys
• LRG_377t1:c.2857G>A
• LRG_377t2:c.2857G>A
• LRG_377:g.93536G>A
• NC_000012.11:g.22001093C>T
• NM_005691.2:c.2857G>A
• NM_005691.3:c.2857G>A

This HGVS expression did not pass validation

Protein change:

E664K

Links:

dbSNP: rs143685061

NCBI 1000 Genomes Browser:

rs143685061

Molecular consequence:

• NM_001377273.1:c.2857G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377274.1:c.1990G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005691.4:c.2857G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020297.4:c.2857G>A - missense variant - [Sequence Ontology: SO:0001583]