Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411988T>A , CM000685.2:g.38411988T>A | GRCh38 |
| NC_000023.10:g.38271241T>A , CM000685.1:g.38271241T>A | GRCh37 |
| NC_000023.9:g.38156185T>A | NCBI36 |
| NG_008471.1:g.64506T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.994T>A MANE Select | NP_000522.3:p.Trp332Arg |
| ENST00000039007.5:c.994T>A MANE Select | ENSP00000039007.4:p.Trp332Arg |
| NM_000531.5:c.994T>A | NP_000522.3:p.Trp332Arg |
| ENST00000039007.4:c.994T>A | ENSP00000039007.4:p.Trp332Arg |
| ENST00000465127.1:c.172-254133T>A | ENSP00000417050.1:n.172-254133T>A |
| ENST00000643344.1:c.*744T>A | ENSP00000496606.1:n.*744T>A |