Revel Score:
ENST00000341735 (MANE Select)
0.888
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776730C>G , CM000677.2:g.89776730C>G | GRCh38 |
| NC_000015.9:g.90319961C>G , CM000677.1:g.90319961C>G | GRCh37 |
| NC_000015.8:g.88120965C>G | NCBI36 |
| NG_008608.1:g.5373C>G | |
| NG_008608.2:g.21140C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.373C>G MANE Select | ENSP00000342392.3:p.Leu125Val | |
| ENST00000341735.3:c.373C>G | ENSP00000342392.3:p.Leu125Val | |
| ENST00000558723.1:n.39-1335C>G | ||
| ENST00000560219.2:c.31-1335C>G | ENSP00000452998.1:n.31-1335C>G | |
| NM_001039958.1:c.373C>G | NP_001035047.1:p.Leu125Val | |
| NM_001039958.2:c.373C>G MANE Select | NP_001035047.1:p.Leu125Val |