| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30237328T>C , CM000679.2:g.30237328T>C | GRCh38 |
| NC_000017.10:g.28564346T>C , CM000679.1:g.28564346T>C | GRCh37 |
| NC_000017.9:g.25588472T>C | NCBI36 |
| NG_011747.2:g.3609A>G |
| HGVS | Amino-acid Change |
|---|---|
| XR_001752824.1:n.280+258T>C | |
| XR_934654.1:n.165+258T>C |