Canonical Allele Identifier: CA15455778
Gene:
MyVariant.info:
GRCh38 chr6:g.33131189C>A
GRCh37 chr6:g.33098966C>A
gnomAD v2:
6:33098966 C / A
gnomAD v3:
6:33131189 C / A
gnomAD v4:
chr6-33131189-C-A
Joint Max Group AF 0.75173645 (EAS)
Genomes Max Group AF 0.75193722 (EAS)
Exomes Max Group AF 0.33686559 (NFE)
dbSNP:
2294478
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33131189C>A , CM000668.2:g.33131189C>A GRCh38
NC_000006.11:g.33098966C>A , CM000668.1:g.33098966C>A GRCh37
NC_000006.10:g.33206944C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926703.1:n.670-90G>T
XR_001744086.1:n.831+8G>T
XR_926703.2:n.680-90G>T
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