Canonical Allele Identifier: CA13731992
Gene:
dbSNP:
10466868
gnomAD v2:
12:131939920 G / T
gnomAD v3:
12:131455375 G / T
gnomAD v4:
chr12-131455375-G-T
Joint Max Group AF 0.10449616 (NFE)
Genomes Max Group AF 0.10456052 (NFE)
Exomes Max Group AF 0.06623897 (NFE)
MyVariant.info:
GRCh38 chr12:g.131455375G>T
GRCh37 chr12:g.131939920G>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131455375G>T , CM000674.2:g.131455375G>T GRCh38
NC_000012.11:g.131939920G>T , CM000674.1:g.131939920G>T GRCh37
NC_000012.10:g.130505873G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945562.1:n.3299C>A
XR_945563.1:n.5730C>A
XR_945564.1:n.3377C>A
XR_001749407.2:n.3700C>A
XR_001749409.2:n.3157C>A
XR_945562.3:n.3489C>A
XR_945563.3:n.3080C>A
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