| HGVS | Genome Assembly | 
|---|---|
| NC_000007.14:g.24283791T>A , CM000669.2:g.24283791T>A | GRCh38 | 
| NC_000007.13:g.24323410T>A , CM000669.1:g.24323410T>A | GRCh37 | 
| NC_000007.12:g.24289935T>A | NCBI36 | 
| NG_016148.1:g.4604T>A | 
| HGVS | Amino-acid Change | 
|---|---|
| XM_017012910.1:c.42-28092A>T | XP_016868399.1:n.42-28092A>T | 
| XM_017012911.1:c.42-28092A>T | XP_016868400.1:n.42-28092A>T | 
| XR_001745121.1:n.473+35566A>T | |
| XR_001745122.1:n.345-86762A>T | |
| XR_001745123.1:n.473+35566A>T | |
| XR_001745124.1:n.473+35566A>T | |
| XR_001745125.1:n.473+35566A>T | |
| XR_001745126.1:n.473+35566A>T | |
| XR_001745127.1:n.345-28092A>T | |
| XR_001745129.1:n.473+35566A>T | |
| XR_001745130.1:n.473+35566A>T | |
| XR_001745131.1:n.473+35566A>T | |
| XR_001745132.1:n.473+35566A>T |