Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408937T= , CM000685.2:g.38408937T= | GRCh38 |
| NC_000023.10:g.38268190T= , CM000685.1:g.38268190T= | GRCh37 |
| NC_000023.9:g.38153134T= | NCBI36 |
| NG_008471.1:g.61455T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.779T= MANE Select | ENSP00000039007.4:p.Leu260= | |
| ENST00000643344.1:c.*529T= | ENSP00000496606.1:n.*529T= | |
| ENST00000039007.4:c.779T= | ENSP00000039007.4:p.Leu260= | |
| ENST00000465127.1:c.172-257184T= | ENSP00000417050.1:n.172-257184T= | |
| NM_000531.5:c.779T= | NP_000522.3:p.Leu260= | |
| XM_017029556.1:c.779T= | XP_016885045.1:p.Leu260= | |
| NM_000531.6:c.779T= MANE Select | NP_000522.3:p.Leu260= |