Canonical Allele Identifier: CA682822692

Gene:

Linked Data

• dbSNP Id: rs1260929714
• gnomAD v3: 12-102501548-C-T
• gnomAD v4: 12-102501548-C-T
• MyVariant Identifiers: chr12:g.102895326C>T (hg19) ; chr12:g.102501548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102501548C>T , CM000674.2:g.102501548C>T	GRCh38
NC_000012.11:g.102895326C>T , CM000674.1:g.102895326C>T	GRCh37
NC_000012.10:g.101419456C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001749289.1:n.1952+17660C>T