Canonical Allele Identifier: CA604287217

Gene:

Linked Data

• dbSNP Id: rs1371851015
• gnomAD v2: 12-28198022-T-C
• gnomAD v3: 12-28045089-T-C
• gnomAD v4: 12-28045089-T-C
• MyVariant Identifiers: chr12:g.28198022T>C (hg19) ; chr12:g.28045089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.28045089T>C , CM000674.2:g.28045089T>C	GRCh38
NC_000012.11:g.28198022T>C , CM000674.1:g.28198022T>C	GRCh37
NC_000012.10:g.28089289T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_931460.1:n.154-6131A>G