Revel Score:
ENST00000367375
0.396
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49075874G>A , CM000685.2:g.49075874G>A | GRCh38 |
| NC_000023.10:g.48933533G>A , CM000685.1:g.48933533G>A | GRCh37 |
| NC_000023.9:g.48820477G>A | NCBI36 |
| NG_033004.1:g.29527C>T | |
| NG_033004.2:g.30297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376372.9:c.508C>T MANE Select | ENSP00000365551.3:p.Gln170Ter | |
| ENST00000322995.13:c.541C>T | ENSP00000365543.5:p.Gln181Ter | |
| ENST00000356463.7:c.511C>T | ENSP00000348848.3:p.Gln171Ter | |
| ENST00000367375.8:c.377C>T | ||
| ENST00000376358.4:c.202C>T | ENSP00000365536.3:p.Gln68Ter | |
| ENST00000376368.7:c.511C>T | ENSP00000365546.2:p.Gln171Ter | |
| ENST00000376372.8:c.508C>T | ENSP00000365551.3:p.Gln170Ter | |
| ENST00000396681.9:c.403C>T | ENSP00000379913.5:p.Gln135Ter | |
| ENST00000419567.7:c.532C>T | ENSP00000393640.3:p.Gln178Ter | |
| ENST00000423215.3:c.562C>T | ENSP00000397657.3:p.Gln188Ter | |
| ENST00000433252.7:n.82C>T | ||
| ENST00000465806.6:n.1665C>T | ||
| ENST00000471338.6:c.508C>T | ENSP00000418466.2:p.Gln170Ter | |
| ENST00000472654.1:n.498C>T | ||
| ENST00000473974.5:c.508C>T | ENSP00000417211.1:p.Gln170Ter | |
| ENST00000474053.6:c.583C>T | ENSP00000420728.1:p.Gln195Ter | |
| ENST00000475880.6:c.406C>T | ENSP00000418919.2:p.Gln136Ter | |
| ENST00000475977.2:c.4C>T | ENSP00000417754.2:p.Gln2Ter | |
| ENST00000480412.2:n.1C>T | ||
| ENST00000485908.6:c.403C>T | ENSP00000419897.1:p.Gln135Ter | |
| ENST00000634522.1:c.*159C>T | ENSP00000489330.1:n.*159C>T | |
| ENST00000634559.1:c.307C>T | ENSP00000488986.1:p.Gln103Ter | |
| ENST00000634736.1:c.202C>T | ENSP00000489561.1:p.Gln68Ter | |
| ENST00000634838.1:c.508C>T | ENSP00000489268.1:p.Gln170Ter | |
| ENST00000634852.1:n.205C>T | ||
| ENST00000634944.1:c.508C>T | ENSP00000488972.1:p.Gln170Ter | |
| ENST00000635003.1:c.307C>T | ENSP00000489080.1:p.Gln103Ter | |
| ENST00000635344.1:c.*159C>T | ENSP00000489553.1:n.*159C>T | |
| ENST00000635666.1:c.436C>T | ENSP00000489128.1:p.Gln146Ter | |
| NM_001029896.1:c.508C>T | NP_001025067.1:p.Gln170Ter | |
| NM_007075.3:c.511C>T | NP_009006.2:p.Gln171Ter | |
| NM_001029896.2:c.508C>T MANE Select | NP_001025067.1:p.Gln170Ter | |
| NM_007075.4:c.511C>T | NP_009006.2:p.Gln171Ter |