Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945887G= , CM000679.2:g.4945887G= | GRCh38 |
| NC_000017.10:g.4849182G= , CM000679.1:g.4849182G= | GRCh37 |
| NC_000017.9:g.4789927G= | NCBI36 |
| NG_012063.2:g.4797G= | |
| NG_032945.1:g.8200C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.*13C= MANE Select | ENSP00000225655.5:n.*13C= | |
| ENST00000225655.5:c.*13C= | ENSP00000225655.5:n.*13C= | |
| ENST00000574872.1:c.*13C= | ENSP00000465019.1:n.*13C= | |
| NM_005022.3:c.*13C= | NP_005013.1:n.*13C= | |
| XM_017024761.1:c.*520C= | XP_016880250.1:n.*520C= | |
| NM_001375991.1:c.*520C= | NP_001362920.1:n.*520C= | |
| NM_005022.4:c.*13C= MANE Select | NP_005013.1:n.*13C= |