Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401366A>T , CM000685.2:g.38401366A>T | GRCh38 |
| NC_000023.10:g.38260619A>T , CM000685.1:g.38260619A>T | GRCh37 |
| NC_000023.9:g.38145563A>T | NCBI36 |
| NG_008471.1:g.53884A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.478A>T MANE Select | NP_000522.3:p.Ile160Phe |
| ENST00000039007.5:c.478A>T MANE Select | ENSP00000039007.4:p.Ile160Phe |
| NM_000531.5:c.478A>T | NP_000522.3:p.Ile160Phe |
| ENST00000039007.4:c.478A>T | ENSP00000039007.4:p.Ile160Phe |
| ENST00000465127.1:c.172-264755A>T | ENSP00000417050.1:n.172-264755A>T |
| ENST00000488812.1:n.515A>T | |
| ENST00000643344.1:c.*228A>T | ENSP00000496606.1:n.*228A>T |
| XM_017029556.1:c.478A>T | XP_016885045.1:p.Ile160Phe |