Canonical Allele Identifier: CA13609538

Gene:

Linked Data

• dbSNP Id: rs10773920
• gnomAD v2: 12-132014206-A-C
• gnomAD v3: 12-131529661-A-C
• gnomAD v4: 12-131529661-A-C
• MyVariant Identifiers: chr12:g.132014206A>C (hg19) ; chr12:g.131529661A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131529661A>C , CM000674.2:g.131529661A>C	GRCh38
NC_000012.11:g.132014206A>C , CM000674.1:g.132014206A>C	GRCh37
NC_000012.10:g.130580159A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_945564.1:n.1076+114T>G
XR_001749407.2:n.1067+114T>G