Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945982A>C , CM000679.2:g.4945982A>C | GRCh38 |
| NC_000017.10:g.4849277A>C , CM000679.1:g.4849277A>C | GRCh37 |
| NC_000017.9:g.4790022A>C | NCBI36 |
| NG_012063.2:g.4892A>C | |
| NG_032945.1:g.8105T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.341T>G MANE Select | ENSP00000225655.5:p.Met114Arg | |
| ENST00000225655.5:c.341T>G | ENSP00000225655.5:p.Met114Arg | |
| ENST00000574872.1:c.233T>G | ENSP00000465019.1:p.Met78Arg | |
| NM_005022.3:c.341T>G | NP_005013.1:p.Met114Arg | |
| XM_017024761.1:c.*425T>G | XP_016880250.1:n.*425T>G | |
| NM_001375991.1:c.*425T>G | NP_001362920.1:n.*425T>G | |
| NM_005022.4:c.341T>G MANE Select | NP_005013.1:p.Met114Arg |