| HGVS | Genome Assembly | 
|---|---|
| NC_000007.14:g.24283895C>T , CM000669.2:g.24283895C>T | GRCh38 | 
| NC_000007.13:g.24323514C>T , CM000669.1:g.24323514C>T | GRCh37 | 
| NC_000007.12:g.24290039C>T | NCBI36 | 
| NG_016148.1:g.4708C>T | 
| HGVS | Amino-acid Change | 
|---|---|
| XM_017012910.1:c.42-28196G>A | XP_016868399.1:n.42-28196G>A | 
| XM_017012911.1:c.42-28196G>A | XP_016868400.1:n.42-28196G>A | 
| XR_001745121.1:n.473+35462G>A | |
| XR_001745122.1:n.345-86866G>A | |
| XR_001745123.1:n.473+35462G>A | |
| XR_001745124.1:n.473+35462G>A | |
| XR_001745125.1:n.473+35462G>A | |
| XR_001745126.1:n.473+35462G>A | |
| XR_001745127.1:n.345-28196G>A | |
| XR_001745129.1:n.473+35462G>A | |
| XR_001745130.1:n.473+35462G>A | |
| XR_001745131.1:n.473+35462G>A | |
| XR_001745132.1:n.473+35462G>A |