Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401331T>G , CM000685.2:g.38401331T>G | GRCh38 |
| NC_000023.10:g.38260584T>G , CM000685.1:g.38260584T>G | GRCh37 |
| NC_000023.9:g.38145528T>G | NCBI36 |
| NG_008471.1:g.53849T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.443T>G MANE Select | NP_000522.3:p.Leu148Trp |
| ENST00000039007.5:c.443T>G MANE Select | ENSP00000039007.4:p.Leu148Trp |
| NM_000531.5:c.443T>G | NP_000522.3:p.Leu148Trp |
| ENST00000039007.4:c.443T>G | ENSP00000039007.4:p.Leu148Trp |
| ENST00000465127.1:c.172-264790T>G | ENSP00000417050.1:n.172-264790T>G |
| ENST00000488812.1:n.480T>G | |
| ENST00000643344.1:c.*193T>G | ENSP00000496606.1:n.*193T>G |
| XM_017029556.1:c.443T>G | XP_016885045.1:p.Leu148Trp |