ClinVar

NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21864461 (on Assembly GRCh38)
• Chr12: 22017395 (on Assembly GRCh37)

Preferred name:

NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala)

HGVS:

• NC_000012.12:g.21864461G>C
• NG_012819.1:g.77234C>G
• NM_001377273.1:c.2215C>G
• NM_001377274.1:c.1351C>G
• NM_005691.4:c.2215C>G
• NM_020297.4:c.2215C>GMANE SELECT
• NP_001364202.1:p.Pro739Ala
• NP_001364203.1:p.Pro451Ala
• NP_005682.2:p.Pro739Ala
• NP_064693.2:p.Pro739Ala
• LRG_377t2:c.2215C>G
• LRG_377:g.77234C>G
• NC_000012.11:g.22017395G>C
• NM_005691.2:c.2215C>G
• NM_005691.3:c.2215C>G

This HGVS expression did not pass validation

Protein change:

P451A

Links:

dbSNP: rs201223488

NCBI 1000 Genomes Browser:

rs201223488

Molecular consequence:

• NM_001377273.1:c.2215C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377274.1:c.1351C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005691.4:c.2215C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_020297.4:c.2215C>G - missense variant - [Sequence Ontology: SO:0001583]