Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945917G>T , CM000679.2:g.4945917G>T | GRCh38 |
| NC_000017.10:g.4849212G>T , CM000679.1:g.4849212G>T | GRCh37 |
| NC_000017.9:g.4789957G>T | NCBI36 |
| NG_012063.2:g.4827G>T | |
| NG_032945.1:g.8170C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.406C>A MANE Select | ENSP00000225655.5:p.Arg136= | |
| ENST00000225655.5:c.406C>A | ENSP00000225655.5:p.Arg136= | |
| ENST00000574872.1:c.298C>A | ENSP00000465019.1:p.Arg100= | |
| NM_005022.3:c.406C>A | NP_005013.1:p.Arg136= | |
| XM_017024761.1:c.*490C>A | XP_016880250.1:n.*490C>A | |
| NM_001375991.1:c.*490C>A | NP_001362920.1:n.*490C>A | |
| NM_005022.4:c.406C>A MANE Select | NP_005013.1:p.Arg136= |