| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.99547493C>G , CM000665.2:g.99547493C>G | GRCh38 |
| NC_000003.11:g.99266337C>G , CM000665.1:g.99266337C>G | GRCh37 |
| NC_000003.10:g.100749027C>G | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001740463.1:n.96+42114G>C | |
| XR_001740466.2:n.475G>C | |
| XR_924268.2:n.475G>C |