Revel Score:
ENST00000442457
0.343
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694376C>G , CM000685.2:g.153694376C>G | GRCh38 |
| NC_000023.10:g.152959831C>G , CM000685.1:g.152959831C>G | GRCh37 |
| NC_000023.9:g.152613025C>G | NCBI36 |
| NG_012016.1:g.11080C>G | |
| NG_012016.2:g.11080C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1425C>G MANE Select | ENSP00000253122.5:p.Tyr475Ter | |
| ENST00000253122.9:c.1425C>G | ENSP00000253122.5:p.Tyr475Ter | |
| ENST00000413787.1:c.354C>G | ENSP00000400463.1:p.Tyr118Ter | |
| ENST00000430077.6:c.1080C>G | ENSP00000403041.2:p.Tyr360Ter | |
| ENST00000442457.1:c.479C>G | ||
| ENST00000485324.1:n.1646C>G | ||
| NM_001142805.1:c.1395C>G | NP_001136277.1:p.Tyr465Ter | |
| NM_001142806.1:c.1080C>G | NP_001136278.1:p.Tyr360Ter | |
| NM_005629.3:c.1425C>G | NP_005620.1:p.Tyr475Ter | |
| NM_005629.4:c.1425C>G MANE Select | NP_005620.1:p.Tyr475Ter | |
| NM_001142805.2:c.1395C>G | NP_001136277.1:p.Tyr465Ter |