| HGVS | Genome Assembly | 
|---|---|
| NC_000007.14:g.24291867A= , CM000669.2:g.24291867A= | GRCh38 | 
| NC_000007.13:g.24331486A= , CM000669.1:g.24331486A= | GRCh37 | 
| NC_000007.12:g.24298011A= | NCBI36 | 
| NG_016148.1:g.12680A= | 
| HGVS | Amino-acid Change | 
|---|---|
| XM_017012910.1:c.41+27490T= | XP_016868399.1:n.41+27490T= | 
| XM_017012911.1:c.41+27490T= | XP_016868400.1:n.41+27490T= | 
| XR_001745121.1:n.473+27490T= | |
| XR_001745122.1:n.345-94838T= | |
| XR_001745123.1:n.473+27490T= | |
| XR_001745124.1:n.473+27490T= | |
| XR_001745125.1:n.473+27490T= | |
| XR_001745126.1:n.473+27490T= | |
| XR_001745127.1:n.345-36168T= | |
| XR_001745129.1:n.473+27490T= | |
| XR_001745130.1:n.473+27490T= | |
| XR_001745131.1:n.473+27490T= | |
| XR_001745132.1:n.473+27490T= |