| HGVS | Genome Assembly | 
|---|---|
| NC_000007.14:g.24283905C= , CM000669.2:g.24283905C= | GRCh38 | 
| NC_000007.13:g.24323524C= , CM000669.1:g.24323524C= | GRCh37 | 
| NC_000007.12:g.24290049C= | NCBI36 | 
| NG_016148.1:g.4718C= | 
| HGVS | Amino-acid Change | 
|---|---|
| XM_017012910.1:c.42-28206G= | XP_016868399.1:n.42-28206G= | 
| XM_017012911.1:c.42-28206G= | XP_016868400.1:n.42-28206G= | 
| XR_001745121.1:n.473+35452G= | |
| XR_001745122.1:n.345-86876G= | |
| XR_001745123.1:n.473+35452G= | |
| XR_001745124.1:n.473+35452G= | |
| XR_001745125.1:n.473+35452G= | |
| XR_001745126.1:n.473+35452G= | |
| XR_001745127.1:n.345-28206G= | |
| XR_001745129.1:n.473+35452G= | |
| XR_001745130.1:n.473+35452G= | |
| XR_001745131.1:n.473+35452G= | |
| XR_001745132.1:n.473+35452G= |