Canonical Allele Identifier: CA682822658

Gene:

Linked Data

• dbSNP Id: rs1220939273
• gnomAD v3: 12-102501469-A-G
• gnomAD v4: 12-102501469-A-G
• MyVariant Identifiers: chr12:g.102895247A>G (hg19) ; chr12:g.102501469A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102501469A>G , CM000674.2:g.102501469A>G	GRCh38
NC_000012.11:g.102895247A>G , CM000674.1:g.102895247A>G	GRCh37
NC_000012.10:g.101419377A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001749289.1:n.1952+17581A>G