Canonical Allele Identifier:
CA290587586
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96032587 (EAS)
Genomes Max Group AF
0.96032587 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40890629C>A , CM000679.2:g.40890629C>A | GRCh38 |
| NC_000017.10:g.39046881C>A , CM000679.1:g.39046881C>A | GRCh37 |
| NC_000017.9:g.36300407C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934754.1:n.1501-27600C>A | ||
| XR_934754.2:n.2009-27600C>A |