Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38381370T>A , CM000685.2:g.38381370T>A | GRCh38 |
| NC_000023.10:g.38240623T>A , CM000685.1:g.38240623T>A | GRCh37 |
| NC_000023.9:g.38125567T>A | NCBI36 |
| NG_008471.1:g.33888T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.327T>A MANE Select | NP_000522.3:p.Cys109Ter |
| ENST00000039007.5:c.327T>A MANE Select | ENSP00000039007.4:p.Cys109Ter |
| NM_000531.5:c.327T>A | NP_000522.3:p.Cys109Ter |
| ENST00000039007.4:c.327T>A | ENSP00000039007.4:p.Cys109Ter |
| ENST00000465127.1:c.172-284751T>A | ENSP00000417050.1:n.172-284751T>A |
| ENST00000488812.1:n.364T>A | |
| ENST00000643344.1:c.*77T>A | ENSP00000496606.1:n.*77T>A |
| XM_017029556.1:c.327T>A | XP_016885045.1:p.Cys109Ter |