Canonical Allele Identifier: CA682822618

Gene:

Linked Data

• dbSNP Id: rs1402428409
• gnomAD v3: 12-102501362-T-C
• gnomAD v4: 12-102501362-T-C
• MyVariant Identifiers: chr12:g.102895140T>C (hg19) ; chr12:g.102501362T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102501362T>C , CM000674.2:g.102501362T>C	GRCh38
NC_000012.11:g.102895140T>C , CM000674.1:g.102895140T>C	GRCh37
NC_000012.10:g.101419270T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001749289.1:n.1952+17474T>C