Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.255798G= , CM000669.2:g.255798G= | GRCh38 |
| NC_000007.13:g.295764G= , CM000669.1:g.295764G= | GRCh37 |
| NG_033970.1:g.65434G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.1073-51G= MANE Select | ENSP00000322323.5:n.1073-51G= | |
| ENST00000313766.5:c.1073-51G= | ENSP00000322323.5:n.1073-51G= | |
| ENST00000515795.1:n.730-51G= | ||
| NM_020223.3:c.1073-51G= | NP_064608.2:n.1073-51G= | |
| XR_242097.3:n.1220-51G= | ||
| XM_017012450.1:c.1334-51G= | XP_016867939.1:n.1334-51G= | |
| XM_017012451.1:c.1331-51G= | XP_016867940.1:n.1331-51G= | |
| XM_017012455.2:c.371-51G= | XP_016867944.1:n.371-51G= | |
| NM_020223.4:c.1073-51G= MANE Select | NP_064608.2:n.1073-51G= |