Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12720314C= , CM000674.2:g.12720314C= | GRCh38 |
| NC_000012.11:g.12873248C= , CM000674.1:g.12873248C= | GRCh37 |
| NC_000012.10:g.12764515C= | NCBI36 |
| NG_016341.1:g.7947C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.*1368C= | ENSP00000507272.1:n.*1368C= | |
| ENST00000682620.1:n.1761-722C= | ||
| ENST00000684771.1:n.715-722C= | ||
| ENST00000228872.9:c.*9-722C= MANE Select | ENSP00000228872.4:n.*9-722C= | |
| ENST00000228872.8:c.*9-722C= | ENSP00000228872.4:n.*9-722C= | |
| ENST00000396340.1:c.476-751C= | ENSP00000379629.1:n.476-751C= | |
| ENST00000442489.1:c.324-722C= | ENSP00000407597.1:n.324-722C= | |
| ENST00000477087.1:n.285-722C= | ||
| NM_004064.4:c.*9-722C= | NP_004055.1:n.*9-722C= | |
| NM_004064.5:c.*9-722C= MANE Select | NP_004055.1:n.*9-722C= |