Canonical Allele Identifier: CA608504788
Gene:

Linked Data

dbSNP Id: rs1300458045
gnomAD v2: 12-132014230-C-T
gnomAD v3: 12-131529685-C-T
gnomAD v4: 12-131529685-C-T
MyVariant Identifiers: chr12:g.132014230C>T (hg19) chr12:g.131529685C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529685C>T , CM000674.2:g.131529685C>T GRCh38
NC_000012.11:g.132014230C>T , CM000674.1:g.132014230C>T GRCh37
NC_000012.10:g.130580183C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945564.1:n.1076+90G>A
XR_001749407.2:n.1067+90G>A
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