Canonical Allele Identifier: CA246212025
Gene:

Linked Data

dbSNP Id: rs942504669
gnomAD v3: 12-131529600-A-T
gnomAD v4: 12-131529600-A-T
MyVariant Identifiers: chr12:g.132014145A>T (hg19) chr12:g.131529600A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529600A>T , CM000674.2:g.131529600A>T GRCh38
NC_000012.11:g.132014145A>T , CM000674.1:g.132014145A>T GRCh37
NC_000012.10:g.130580098A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945564.1:n.1076+175T>A
XR_001749407.2:n.1067+175T>A
Search 100 bp 5'
Search 100 bp 3'