Canonical Allele Identifier:
CA12036086
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55807817 (EAS)
Genomes Max Group AF
0.55807817 (EAS)
dbSNP:
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 |