Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945864C>A , CM000679.2:g.4945864C>A | GRCh38 |
| NC_000017.10:g.4849159C>A , CM000679.1:g.4849159C>A | GRCh37 |
| NC_000017.9:g.4789904C>A | NCBI36 |
| NG_012063.2:g.4774C>A | |
| NG_032945.1:g.8223G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.*36G>T MANE Select | ENSP00000225655.5:n.*36G>T | |
| ENST00000225655.5:c.*36G>T | ENSP00000225655.5:n.*36G>T | |
| ENST00000574872.1:c.*36G>T | ENSP00000465019.1:n.*36G>T | |
| NM_005022.3:c.*36G>T | NP_005013.1:n.*36G>T | |
| XM_017024761.1:c.*543G>T | XP_016880250.1:n.*543G>T | |
| NM_001375991.1:c.*543G>T | NP_001362920.1:n.*543G>T | |
| NM_005022.4:c.*36G>T MANE Select | NP_005013.1:n.*36G>T |