Canonical Allele Identifier: CA246212034

Gene:

Linked Data

• dbSNP Id: rs903526932
• gnomAD v3: 12-131529609-A-G
• gnomAD v4: 12-131529609-A-G
• MyVariant Identifiers: chr12:g.132014154A>G (hg19) ; chr12:g.131529609A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131529609A>G , CM000674.2:g.131529609A>G	GRCh38
NC_000012.11:g.132014154A>G , CM000674.1:g.132014154A>G	GRCh37
NC_000012.10:g.130580107A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_945564.1:n.1076+166T>C
XR_001749407.2:n.1067+166T>C