Revel Score:
ENST00000299697
0.389
ENST00000417693
0.389
ENST00000545043
0.389
ENST00000451102
0.389
ENST00000527800
0.389
ENST00000527284
0.389
ENST00000544898 (MANE Select)
0.389
ENST00000525974
0.389
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66517171T>C , CM000678.2:g.66517171T>C | GRCh38 |
| NC_000016.9:g.66551074T>C , CM000678.1:g.66551074T>C | GRCh37 |
| NC_000016.8:g.65108575T>C | NCBI36 |
| NG_016862.1:g.38242A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.415A>G | ENSP00000299697.9:p.Lys139Glu | |
| ENST00000417693.8:c.529A>G | ENSP00000407469.5:p.Lys177Glu | |
| ENST00000451102.7:c.490A>G | ENSP00000414334.4:p.Lys164Glu | |
| ENST00000527284.6:c.527A>G | ||
| ENST00000527800.6:c.292A>G | ENSP00000433770.1:p.Lys98Glu | |
| ENST00000544898.6:c.583A>G MANE Select | ENSP00000440898.2:p.Lys195Glu | |
| ENST00000567357.6:c.*441A>G | ENSP00000457959.2:n.*441A>G | |
| ENST00000569718.6:c.357-3360A>G | ENSP00000464313.2:n.357-3360A>G | |
| ENST00000620035.5:c.375-3360A>G | ENSP00000483833.2:n.375-3360A>G | |
| ENST00000676538.1:c.166A>G | ||
| ENST00000676904.1:c.89+618A>G | ||
| ENST00000677379.1:c.224A>G | ENSP00000503672.1:n.224A>G | |
| ENST00000677420.1:c.292A>G | ENSP00000504648.1:p.Lys98Glu | |
| ENST00000677555.1:c.292A>G | ENSP00000503331.1:p.Lys98Glu | |
| ENST00000677715.1:c.292A>G | ENSP00000502950.1:p.Lys98Glu | |
| ENST00000678015.1:c.292A>G | ENSP00000502959.1:p.Lys98Glu | |
| ENST00000678297.1:c.292A>G | ENSP00000503472.1:p.Lys98Glu | |
| ENST00000678314.1:c.292A>G | ENSP00000504438.1:p.Lys98Glu | |
| ENST00000299697.11:c.583A>G | ENSP00000299697.8:p.Lys195Glu | |
| ENST00000417693.7:c.655A>G | ENSP00000407469.4:p.Lys219Glu | |
| ENST00000451102.6:c.709A>G | ENSP00000414334.3:p.Lys237Glu | |
| ENST00000525974.5:c.292A>G | ENSP00000434594.1:p.Lys98Glu | |
| ENST00000527284.5:c.490A>G | ENSP00000435312.1:p.Lys164Glu | |
| ENST00000527800.5:c.292A>G | ENSP00000433770.1:p.Lys98Glu | |
| ENST00000544898.5:c.583A>G | ENSP00000440898.2:p.Lys195Glu | |
| ENST00000545043.6:c.508A>G | ENSP00000438143.2:p.Lys170Glu | |
| ENST00000561527.5:n.142A>G | ||
| ENST00000561728.1:c.32A>G | ||
| ENST00000562552.5:n.399A>G | ||
| ENST00000563099.5:n.110A>G | ||
| ENST00000563369.6:c.292A>G | ENSP00000463560.1:p.Lys98Glu | |
| ENST00000563478.5:c.292A>G | ENSP00000462341.1:p.Lys98Glu | |
| ENST00000564792.1:n.238A>G | ||
| ENST00000564917.5:c.583A>G | ENSP00000455187.1:p.Lys195Glu | |
| ENST00000567357.5:c.*441A>G | ENSP00000457959.1:n.*441A>G | |
| ENST00000569718.5:c.344-3360A>G | ||
| ENST00000620035.4:c.529A>G | ENSP00000483833.1:p.Lys177Glu | |
| NM_001172643.1:c.490A>G | NP_001166114.1:p.Lys164Glu | |
| NM_001172644.1:c.508A>G | NP_001166115.1:p.Lys170Glu | |
| NM_001172645.1:c.529A>G | NP_001166116.1:p.Lys177Glu | |
| NM_001271934.1:c.436A>G | NP_001258863.1:p.Lys146Glu | |
| NM_001271935.1:c.357-3360A>G | NP_001258864.1:n.357-3360A>G | |
| NM_001272050.1:c.292A>G | NP_001258979.1:p.Lys98Glu | |
| NM_004614.4:c.583A>G | NP_004605.4:p.Lys195Glu | |
| NR_073520.1:n.1862A>G | ||
| NM_001172644.2:c.508A>G | NP_001166115.1:p.Lys170Glu | |
| NM_001271934.2:c.436A>G | NP_001258863.1:p.Lys146Glu | |
| NM_001272050.2:c.292A>G | NP_001258979.1:p.Lys98Glu | |
| NM_004614.5:c.583A>G MANE Select | NP_004605.4:p.Lys195Glu | |
| NR_073520.2:n.1572A>G | ||
| NM_001172645.2:c.529A>G | NP_001166116.1:p.Lys177Glu |