| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96104564T>G , CM000677.2:g.96104564T>G | GRCh38 |
| NC_000015.9:g.96647793T>G , CM000677.1:g.96647793T>G | GRCh37 |
| NC_000015.8:g.94448797T>G | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| NR_158193.1:n.1087-406A>C | |
| XR_001751686.2:n.138-406A>C | |
| XR_002957737.1:n.450+113680T>G | |
| XR_932658.1:n.314-406A>C |