| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.33201020G>A , CM000677.2:g.33201020G>A | GRCh38 |
| NC_000015.9:g.33493221G>A , CM000677.1:g.33493221G>A | GRCh37 |
| NC_000015.8:g.31280513G>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_932090.1:n.820+1638G>A | |
| XR_932090.2:n.798+1638G>A | |
| XR_932091.1:n.820+1638G>A |