Canonical Allele Identifier: CA12036086
Gene:
dbSNP:
10077875
gnomAD v2:
5:128722696 G / A
gnomAD v3:
5:129387003 G / A
gnomAD v4:
chr5-129387003-G-A
Joint Max Group AF 0.55807817 (EAS)
Genomes Max Group AF 0.55807817 (EAS)
MyVariant.info:
GRCh38 chr5:g.129387003G>A
GRCh37 chr5:g.128722696G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.129387003G>A , CM000667.2:g.129387003G>A GRCh38
NC_000005.9:g.128722696G>A , CM000667.1:g.128722696G>A GRCh37
NC_000005.8:g.128750595G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427770.2:n.163-1445G>A
XR_948774.1:n.235-5648G>A
XR_001742463.1:n.4089-1445G>A
XR_001742464.1:n.2019-5648G>A
XR_001742465.1:n.401-1445G>A
XR_427770.3:n.337-1445G>A
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