| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63918895A>T , CM000679.2:g.63918895A>T | GRCh38 |
| NC_000017.10:g.61996255A>T , CM000679.1:g.61996255A>T | GRCh37 |
| NC_000017.9:g.59349987A>T | NCBI36 |
| NG_011676.1:g.4944T>A |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000647774.1:c.289-389T>A |