Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152746792G>A , CM000668.2:g.152746792G>A | GRCh38 |
| NC_000006.11:g.153067927G>A , CM000668.1:g.153067927G>A | GRCh37 |
| NC_000006.10:g.153109620G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011536152.3:c.*1661G>A | XP_011534454.1:n.*1661G>A |
| XM_017011319.2:c.*1503G>A | XP_016866808.1:n.*1503G>A |
| XR_942593.1:n.2219G>A |