Canonical Allele Identifier: CA13719591
Gene:

Linked Data

dbSNP Id: rs11615866
gnomAD v2: 12-5393329-C-T
gnomAD v3: 12-5284163-C-T
gnomAD v4: 12-5284163-C-T
MyVariant Identifiers: chr12:g.5393329C>T (hg19) chr12:g.5284163C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5284163C>T , CM000674.2:g.5284163C>T GRCh38
NC_000012.11:g.5393329C>T , CM000674.1:g.5393329C>T GRCh37
NC_000012.10:g.5263590C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_931576.1:n.611+7274C>T
XR_931577.1:n.611+7274C>T
XR_001748970.1:n.594+7274C>T
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