| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30237152G>T , CM000679.2:g.30237152G>T | GRCh38 |
| NC_000017.10:g.28564170G>T , CM000679.1:g.28564170G>T | GRCh37 |
| NC_000017.9:g.25588296G>T | NCBI36 |
| NG_011747.2:g.3785C>A |
| HGVS | Amino-acid Change |
|---|---|
| XR_001752824.1:n.280+82G>T | |
| XR_934654.1:n.165+82G>T |