| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24283777C>T , CM000669.2:g.24283777C>T | GRCh38 |
| NC_000007.13:g.24323396C>T , CM000669.1:g.24323396C>T | GRCh37 |
| NC_000007.12:g.24289921C>T | NCBI36 |
| NG_016148.1:g.4590C>T |
| HGVS | Amino-acid Change |
|---|---|
| XM_017012910.1:c.42-28078G>A | XP_016868399.1:n.42-28078G>A |
| XM_017012911.1:c.42-28078G>A | XP_016868400.1:n.42-28078G>A |
| XR_001745121.1:n.473+35580G>A | |
| XR_001745122.1:n.345-86748G>A | |
| XR_001745123.1:n.473+35580G>A | |
| XR_001745124.1:n.473+35580G>A | |
| XR_001745125.1:n.473+35580G>A | |
| XR_001745126.1:n.473+35580G>A | |
| XR_001745127.1:n.345-28078G>A | |
| XR_001745129.1:n.473+35580G>A | |
| XR_001745130.1:n.473+35580G>A | |
| XR_001745131.1:n.473+35580G>A | |
| XR_001745132.1:n.473+35580G>A |