Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38401304T= , CM000685.2:g.38401304T= | GRCh38 |
| NC_000023.10:g.38260557T= , CM000685.1:g.38260557T= | GRCh37 |
| NC_000023.9:g.38145501T= | NCBI36 |
| NG_008471.1:g.53822T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.6:c.416T= MANE Select | NP_000522.3:p.Leu139= |
| ENST00000039007.5:c.416T= MANE Select | ENSP00000039007.4:p.Leu139= |
| NM_000531.5:c.416T= | NP_000522.3:p.Leu139= |
| ENST00000039007.4:c.416T= | ENSP00000039007.4:p.Leu139= |
| ENST00000465127.1:c.172-264817T= | ENSP00000417050.1:n.172-264817T= |
| ENST00000488812.1:n.453T= | |
| ENST00000643344.1:c.*166T= | ENSP00000496606.1:n.*166T= |
| XM_017029556.1:c.416T= | XP_016885045.1:p.Leu139= |