Canonical Allele Identifier: CA246212037
Gene:

Linked Data

dbSNP Id: rs532272640
gnomAD v3: 12-131529617-T-A
gnomAD v4: 12-131529617-T-A
MyVariant Identifiers: chr12:g.132014162T>A (hg19) chr12:g.131529617T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529617T>A , CM000674.2:g.131529617T>A GRCh38
NC_000012.11:g.132014162T>A , CM000674.1:g.132014162T>A GRCh37
NC_000012.10:g.130580115T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945564.1:n.1076+158A>T
XR_001749407.2:n.1067+158A>T
Search 100 bp 5'
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