Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.255670G>A , CM000669.2:g.255670G>A | GRCh38 |
| NC_000007.13:g.295636G>A , CM000669.1:g.295636G>A | GRCh37 |
| NG_033970.1:g.65306G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.1073-179G>A MANE Select | ENSP00000322323.5:n.1073-179G>A | |
| ENST00000313766.5:c.1073-179G>A | ENSP00000322323.5:n.1073-179G>A | |
| ENST00000515795.1:n.730-179G>A | ||
| NM_020223.3:c.1073-179G>A | NP_064608.2:n.1073-179G>A | |
| XR_242097.3:n.1220-179G>A | ||
| XM_017012450.1:c.1334-179G>A | XP_016867939.1:n.1334-179G>A | |
| XM_017012451.1:c.1331-179G>A | XP_016867940.1:n.1331-179G>A | |
| XM_017012455.2:c.371-179G>A | XP_016867944.1:n.371-179G>A | |
| NM_020223.4:c.1073-179G>A MANE Select | NP_064608.2:n.1073-179G>A |