Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945843G>A , CM000679.2:g.4945843G>A | GRCh38 |
| NC_000017.10:g.4849138G>A , CM000679.1:g.4849138G>A | GRCh37 |
| NC_000017.9:g.4789883G>A | NCBI36 |
| NG_012063.2:g.4753G>A | |
| NG_032945.1:g.8244C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.*57C>T MANE Select | ENSP00000225655.5:n.*57C>T | |
| ENST00000225655.5:c.*57C>T | ENSP00000225655.5:n.*57C>T | |
| ENST00000574872.1:c.*57C>T | ENSP00000465019.1:n.*57C>T | |
| NM_005022.3:c.*57C>T | NP_005013.1:n.*57C>T | |
| XM_017024761.1:c.*564C>T | XP_016880250.1:n.*564C>T | |
| NM_001375991.1:c.*564C>T | NP_001362920.1:n.*564C>T | |
| NM_005022.4:c.*57C>T MANE Select | NP_005013.1:n.*57C>T |