Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945900T>G , CM000679.2:g.4945900T>G | GRCh38 |
| NC_000017.10:g.4849195T>G , CM000679.1:g.4849195T>G | GRCh37 |
| NC_000017.9:g.4789940T>G | NCBI36 |
| NG_012063.2:g.4810T>G | |
| NG_032945.1:g.8187A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.423A>C MANE Select | ENSP00000225655.5:p.Ter141Cys | |
| ENST00000225655.5:c.423A>C | ENSP00000225655.5:p.Ter141Cys | |
| ENST00000574872.1:c.315A>C | ENSP00000465019.1:p.Ter105Cys | |
| NM_005022.3:c.423A>C | NP_005013.1:p.Ter141Cys | |
| XM_017024761.1:c.*507A>C | XP_016880250.1:n.*507A>C | |
| NM_001375991.1:c.*507A>C | NP_001362920.1:n.*507A>C | |
| NM_005022.4:c.423A>C MANE Select | NP_005013.1:p.Ter141Cys |