Revel Score:
ENST00000375692
0.889
ENST00000420078
0.889
ENST00000331433 (MANE Select)
0.889
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16024773G>T , CM000663.2:g.16024773G>T | GRCh38 |
| NC_000001.10:g.16351268G>T , CM000663.1:g.16351268G>T | GRCh37 |
| NC_000001.9:g.16223855G>T | NCBI36 |
| NG_009359.1:g.7783G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331433.5:c.240G>T MANE Select | ENSP00000332771.4:p.Trp80Cys | |
| ENST00000331433.4:c.240G>T | ENSP00000332771.4:p.Trp80Cys | |
| ENST00000375692.5:c.240G>T | ENSP00000364844.1:p.Trp80Cys | |
| ENST00000439316.6:c.229+845G>T | ENSP00000414445.2:n.229+845G>T | |
| ENST00000464764.5:n.889-86G>T | ||
| ENST00000495784.1:n.398G>T | ||
| NM_001042704.1:c.240G>T | NP_001036169.1:p.Trp80Cys | |
| NM_001257139.1:c.229+845G>T | NP_001244068.1:n.229+845G>T | |
| NM_004070.3:c.240G>T | NP_004061.3:p.Trp80Cys | |
| NM_004070.4:c.240G>T MANE Select | NP_004061.3:p.Trp80Cys | |
| NM_001042704.2:c.240G>T | NP_001036169.1:p.Trp80Cys | |
| NM_001257139.2:c.229+845G>T | NP_001244068.1:n.229+845G>T |