Canonical Allele Identifier: CA246212056
Gene:

Linked Data

dbSNP Id: rs114323071
gnomAD v2: 12-132014225-A-G
gnomAD v3: 12-131529680-A-G
gnomAD v4: 12-131529680-A-G
MyVariant Identifiers: chr12:g.132014225A>G (hg19) chr12:g.131529680A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529680A>G , CM000674.2:g.131529680A>G GRCh38
NC_000012.11:g.132014225A>G , CM000674.1:g.132014225A>G GRCh37
NC_000012.10:g.130580178A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945564.1:n.1076+95T>C
XR_001749407.2:n.1067+95T>C
Search 100 bp 5'
Search 100 bp 3'