Revel Score:
ENST00000377205 (MANE Select)
0.755
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9982318C>G , CM000663.2:g.9982318C>G | GRCh38 |
| NC_000001.10:g.10042376C>G , CM000663.1:g.10042376C>G | GRCh37 |
| NC_000001.9:g.9964963C>G | NCBI36 |
| NG_032954.1:g.43891C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377205.6:c.457C>G MANE Select | ENSP00000366410.1:p.Leu153Val | |
| ENST00000377205.5:c.457C>G | ENSP00000366410.1:p.Leu153Val | |
| ENST00000462686.1:c.457C>G | ENSP00000435134.1:p.Leu153Val | |
| ENST00000496751.1:c.119+1148C>G | ||
| NM_001297778.1:c.457C>G | NP_001284707.1:p.Leu153Val | |
| NM_022787.3:c.457C>G | NP_073624.2:p.Leu153Val | |
| XM_011541971.1:c.439+1148C>G | XP_011540273.1:n.439+1148C>G | |
| XM_011541971.2:c.439+1148C>G | XP_011540273.1:n.439+1148C>G | |
| XM_017002107.2:c.457C>G | XP_016857596.1:p.Leu153Val | |
| XM_017002108.2:c.439+1148C>G | XP_016857597.1:n.439+1148C>G | |
| NM_022787.4:c.457C>G MANE Select | NP_073624.2:p.Leu153Val |