Canonical Allele Identifier: CA10654489

Gene:

Linked Data

• ClinVar Variation Id: 368991
• ClinVar RCV Id: RCV000334902
• dbSNP Id: rs530782147
• gnomAD v3: 12-12722384-T-C
• gnomAD v4: 12-12722384-T-C
• MyVariant Identifiers: chr12:g.12875318T>C (hg19) ; chr12:g.12722384T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12722384T>C , CM000674.2:g.12722384T>C	GRCh38
NC_000012.11:g.12875318T>C , CM000674.1:g.12875318T>C	GRCh37
NC_000012.10:g.12766585T>C	NCBI36
NG_016341.1:g.10017T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_931366.1:n.1751A>G
XR_931366.3:n.1473A>G