| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29376331C>T , CM000679.2:g.29376331C>T | GRCh38 |
| NC_000017.10:g.27703349C>T , CM000679.1:g.27703349C>T | GRCh37 |
| NC_000017.9:g.24727475C>T | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XM_011525588.1:c.1008-6026G>A | XP_011523890.1:n.1008-6026G>A |