Revel Score:
ENST00000370803 (MANE Select)
0.560
ENST00000332070
0.560
ENST00000394292
0.560
ENST00000370799
0.560
ENST00000416404
0.560
ENST00000370800
0.560
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134415065T>G , CM000685.2:g.134415065T>G | GRCh38 |
| NC_000023.10:g.133549095T>G , CM000685.1:g.133549095T>G | GRCh37 |
| NC_000023.9:g.133376761T>G | NCBI36 |
| NG_008886.1:g.46754T>G , LRG_629:g.46754T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685553.1:c.*698T>G | ENSP00000510193.1:n.*698T>G | |
| ENST00000687496.1:c.677T>G | ENSP00000509551.1:p.Phe226Cys | |
| ENST00000688598.1:c.677T>G | ENSP00000510410.1:p.Phe226Cys | |
| ENST00000691812.1:c.779T>G | ENSP00000510211.1:p.Phe260Cys | |
| ENST00000693759.1:c.*391T>G | ENSP00000509518.1:n.*391T>G | |
| ENST00000370803.8:c.779T>G MANE Select | ENSP00000359839.4:p.Phe260Cys | |
| ENST00000332070.7:c.779T>G | ENSP00000329097.3:p.Phe260Cys | |
| ENST00000370799.5:c.782T>G | ENSP00000359835.1:p.Phe261Cys | |
| ENST00000370800.4:c.782T>G | ENSP00000359836.4:p.Phe261Cys | |
| ENST00000370803.7:c.779T>G | ENSP00000359839.3:p.Phe260Cys | |
| ENST00000625464.2:c.782T>G | ENSP00000487420.1:p.Phe261Cys | |
| NM_001015877.1:c.779T>G , LRG_629t1:c.779T>G | NP_001015877.1:p.Phe260Cys | |
| NM_032335.3:c.782T>G , LRG_629t2:c.782T>G | NP_115711.2:p.Phe261Cys | |
| NM_032458.2:c.779T>G | NP_115834.1:p.Phe260Cys | |
| NM_001015877.2:c.779T>G MANE Select | NP_001015877.1:p.Phe260Cys | |
| NM_032458.3:c.779T>G | NP_115834.1:p.Phe260Cys |