Revel Score:
ENST00000367375
0.541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49076469G>A , CM000685.2:g.49076469G>A | GRCh38 |
| NC_000023.10:g.48934128G>A , CM000685.1:g.48934128G>A | GRCh37 |
| NC_000023.9:g.48821072G>A | NCBI36 |
| NG_033004.1:g.28932C>T | |
| NG_033004.2:g.29702C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376372.9:c.397C>T MANE Select | ENSP00000365551.3:p.Arg133Ter | |
| ENST00000322995.13:c.397C>T | ENSP00000365543.5:p.Arg133Ter | |
| ENST00000356463.7:c.400C>T | ENSP00000348848.3:p.Arg134Ter | |
| ENST00000367375.8:c.266C>T | ||
| ENST00000376358.4:c.131-524C>T | ENSP00000365536.3:n.131-524C>T | |
| ENST00000376368.7:c.400C>T | ENSP00000365546.2:p.Arg134Ter | |
| ENST00000376372.8:c.397C>T | ENSP00000365551.3:p.Arg133Ter | |
| ENST00000396681.9:c.292C>T | ENSP00000379913.5:p.Arg98Ter | |
| ENST00000419567.7:c.397C>T | ENSP00000393640.3:p.Arg133Ter | |
| ENST00000423215.3:c.451C>T | ENSP00000397657.3:p.Arg151Ter | |
| ENST00000465382.6:c.397C>T | ENSP00000420534.1:p.Arg133Ter | |
| ENST00000465806.6:n.1554C>T | ||
| ENST00000471338.6:c.397C>T | ENSP00000418466.2:p.Arg133Ter | |
| ENST00000472654.1:n.302C>T | ||
| ENST00000473974.5:c.397C>T | ENSP00000417211.1:p.Arg133Ter | |
| ENST00000474053.6:c.472C>T | ENSP00000420728.1:p.Arg158Ter | |
| ENST00000475880.6:c.295C>T | ENSP00000418919.2:p.Arg99Ter | |
| ENST00000476728.5:c.292C>T | ENSP00000419324.1:p.Arg98Ter | |
| ENST00000485908.6:c.292C>T | ENSP00000419897.1:p.Arg98Ter | |
| ENST00000634465.1:n.675C>T | ||
| ENST00000634522.1:c.*48C>T | ENSP00000489330.1:n.*48C>T | |
| ENST00000634559.1:c.236-524C>T | ENSP00000488986.1:n.236-524C>T | |
| ENST00000634736.1:c.131-524C>T | ENSP00000489561.1:n.131-524C>T | |
| ENST00000634838.1:c.397C>T | ENSP00000489268.1:p.Arg133Ter | |
| ENST00000634849.1:c.466C>T | ENSP00000489150.1:p.Arg156Ter | |
| ENST00000634852.1:n.100-6C>T | ||
| ENST00000634944.1:c.397C>T | ENSP00000488972.1:p.Arg133Ter | |
| ENST00000635003.1:c.236-524C>T | ENSP00000489080.1:n.236-524C>T | |
| ENST00000635344.1:c.*48C>T | ENSP00000489553.1:n.*48C>T | |
| ENST00000635666.1:c.325C>T | ENSP00000489128.1:p.Arg109Ter | |
| NM_001029896.1:c.397C>T | NP_001025067.1:p.Arg133Ter | |
| NM_007075.3:c.400C>T | NP_009006.2:p.Arg134Ter | |
| NM_001029896.2:c.397C>T MANE Select | NP_001025067.1:p.Arg133Ter | |
| NM_007075.4:c.400C>T | NP_009006.2:p.Arg134Ter |