Canonical Allele Identifier: CA246212078

Gene:

Linked Data

• dbSNP Id: rs934949853
• gnomAD v2: 12-132014246-C-T
• gnomAD v3: 12-131529701-C-T
• gnomAD v4: 12-131529701-C-T
• MyVariant Identifiers: chr12:g.132014246C>T (hg19) ; chr12:g.131529701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131529701C>T , CM000674.2:g.131529701C>T	GRCh38
NC_000012.11:g.132014246C>T , CM000674.1:g.132014246C>T	GRCh37
NC_000012.10:g.130580199C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945564.1:n.1076+74G>A
XR_001749407.2:n.1067+74G>A