Canonical Allele Identifier: CA13429194
Gene:
gnomAD v2:
11:113346955 A / G
gnomAD v3:
11:113476233 A / G
gnomAD v4:
chr11-113476233-A-G
Joint Max Group AF 0.09428691 (SAS)
Genomes Max Group AF 0.09428691 (SAS)
ClinVar RCV:
RCV001512458
ClinVar Variation:
1165389
dbSNP:
12364283
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113476233A>G , CM000673.2:g.113476233A>G GRCh38
NC_000011.9:g.113346955A>G , CM000673.1:g.113346955A>G GRCh37
NC_000011.8:g.112852165A>G NCBI36
NG_008841.1:g.4047T>C

Transcript Alleles

HGVS Amino-acid Change
XR_948023.1:n.205-380T>C
XR_948024.2:n.589-380T>C
Search 100 bp 5'
Search 100 bp 3'