Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401332G= , CM000685.2:g.38401332G= | GRCh38 |
| NC_000023.10:g.38260585G= , CM000685.1:g.38260585G= | GRCh37 |
| NC_000023.9:g.38145529G= | NCBI36 |
| NG_008471.1:g.53850G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.444G= MANE Select | ENSP00000039007.4:p.Leu148= | |
| ENST00000643344.1:c.*194G= | ENSP00000496606.1:n.*194G= | |
| ENST00000039007.4:c.444G= | ENSP00000039007.4:p.Leu148= | |
| ENST00000465127.1:c.172-264789G= | ENSP00000417050.1:n.172-264789G= | |
| ENST00000488812.1:n.481G= | ||
| NM_000531.5:c.444G= | NP_000522.3:p.Leu148= | |
| XM_017029556.1:c.444G= | XP_016885045.1:p.Leu148= | |
| NM_000531.6:c.444G= MANE Select | NP_000522.3:p.Leu148= |