| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70486384T>C , CM000680.2:g.70486384T>C | GRCh38 |
| NC_000018.9:g.68153620T>C , CM000680.1:g.68153620T>C | GRCh37 |
| NC_000018.8:g.66304600T>C | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001753496.1:n.258+21345T>C | |
| XR_935606.1:n.330T>C | |
| XR_935606.2:n.596T>C | |
| XR_935607.1:n.330T>C |