Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401331T= , CM000685.2:g.38401331T= | GRCh38 |
| NC_000023.10:g.38260584T= , CM000685.1:g.38260584T= | GRCh37 |
| NC_000023.9:g.38145528T= | NCBI36 |
| NG_008471.1:g.53849T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.443T= MANE Select | NP_000522.3:p.Leu148= |
| ENST00000039007.5:c.443T= MANE Select | ENSP00000039007.4:p.Leu148= |
| NM_000531.5:c.443T= | NP_000522.3:p.Leu148= |
| ENST00000039007.4:c.443T= | ENSP00000039007.4:p.Leu148= |
| ENST00000465127.1:c.172-264790T= | ENSP00000417050.1:n.172-264790T= |
| ENST00000488812.1:n.480T= | |
| ENST00000643344.1:c.*193T= | ENSP00000496606.1:n.*193T= |
| XM_017029556.1:c.443T= | XP_016885045.1:p.Leu148= |