Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945902A>T , CM000679.2:g.4945902A>T | GRCh38 |
| NC_000017.10:g.4849197A>T , CM000679.1:g.4849197A>T | GRCh37 |
| NC_000017.9:g.4789942A>T | NCBI36 |
| NG_012063.2:g.4812A>T | |
| NG_032945.1:g.8185T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.421T>A MANE Select | ENSP00000225655.5:p.Ter141Arg | |
| ENST00000225655.5:c.421T>A | ENSP00000225655.5:p.Ter141Arg | |
| ENST00000574872.1:c.313T>A | ENSP00000465019.1:p.Ter105Arg | |
| NM_005022.3:c.421T>A | NP_005013.1:p.Ter141Arg | |
| XM_017024761.1:c.*505T>A | XP_016880250.1:n.*505T>A | |
| NM_001375991.1:c.*505T>A | NP_001362920.1:n.*505T>A | |
| NM_005022.4:c.421T>A MANE Select | NP_005013.1:p.Ter141Arg |