Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945922T= , CM000679.2:g.4945922T= | GRCh38 |
| NC_000017.10:g.4849217T= , CM000679.1:g.4849217T= | GRCh37 |
| NC_000017.9:g.4789962T= | NCBI36 |
| NG_012063.2:g.4832T= | |
| NG_032945.1:g.8165A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.401A= MANE Select | ENSP00000225655.5:p.His134= | |
| ENST00000225655.5:c.401A= | ENSP00000225655.5:p.His134= | |
| ENST00000574872.1:c.293A= | ENSP00000465019.1:p.His98= | |
| NM_005022.3:c.401A= | NP_005013.1:p.His134= | |
| XM_017024761.1:c.*485A= | XP_016880250.1:n.*485A= | |
| NM_001375991.1:c.*485A= | NP_001362920.1:n.*485A= | |
| NM_005022.4:c.401A= MANE Select | NP_005013.1:p.His134= |