| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104928254G>C , CM000671.2:g.104928254G>C | GRCh38 |
| NC_000009.11:g.107690535G>C , CM000671.1:g.107690535G>C | GRCh37 |
| NC_000009.10:g.106730356G>C | NCBI36 |
| NG_007981.1:g.4902C>G |
| HGVS | Amino-acid Change |
|---|---|
| XR_930204.1:n.734+344G>C | |
| XR_930204.2:n.115+344G>C |