Canonical Allele Identifier: CA685452808
Gene:

Linked Data

dbSNP Id: rs1183546064
gnomAD v3: 12-131529564-T-C
gnomAD v4: 12-131529564-T-C
MyVariant Identifiers: chr12:g.132014109T>C (hg19) chr12:g.131529564T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529564T>C , CM000674.2:g.131529564T>C GRCh38
NC_000012.11:g.132014109T>C , CM000674.1:g.132014109T>C GRCh37
NC_000012.10:g.130580062T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945564.1:n.1076+211A>G
XR_001749407.2:n.1067+211A>G
Search 100 bp 5'
Search 100 bp 3'