Revel Score:
ENST00000299697
0.446
ENST00000417693
0.446
ENST00000545043
0.446
ENST00000451102
0.446
ENST00000527800
0.446
ENST00000527284
0.446
ENST00000544898 (MANE Select)
0.446
ENST00000525974
0.446
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66512006G>C , CM000678.2:g.66512006G>C | GRCh38 |
| NC_000016.9:g.66545909G>C , CM000678.1:g.66545909G>C | GRCh37 |
| NC_000016.8:g.65103410G>C | NCBI36 |
| NG_016862.1:g.43407C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.592C>G | ENSP00000299697.9:p.Arg198Gly | |
| ENST00000417693.8:c.706C>G | ENSP00000407469.5:p.Arg236Gly | |
| ENST00000451102.7:c.667C>G | ENSP00000414334.4:p.Arg223Gly | |
| ENST00000527284.6:c.623C>G | ||
| ENST00000527800.6:c.469C>G | ENSP00000433770.1:p.Arg157Gly | |
| ENST00000544898.6:c.760C>G MANE Select | ENSP00000440898.2:p.Arg254Gly | |
| ENST00000567357.6:c.*618C>G | ENSP00000457959.2:n.*618C>G | |
| ENST00000569718.6:c.*57C>G | ENSP00000464313.2:n.*57C>G | |
| ENST00000620035.5:c.*57C>G | ENSP00000483833.2:n.*57C>G | |
| ENST00000677166.1:n.61C>G | ||
| ENST00000677319.1:c.61C>G | ENSP00000503900.1:p.Arg21Gly | |
| ENST00000677420.1:c.469C>G | ENSP00000504648.1:p.Arg157Gly | |
| ENST00000677535.1:c.61C>G | ENSP00000502856.1:p.Arg21Gly | |
| ENST00000677555.1:c.469C>G | ENSP00000503331.1:p.Arg157Gly | |
| ENST00000677715.1:c.469C>G | ENSP00000502950.1:p.Arg157Gly | |
| ENST00000677753.1:n.81+1725C>G | ||
| ENST00000678015.1:c.469C>G | ENSP00000502959.1:p.Arg157Gly | |
| ENST00000678099.1:c.61C>G | ENSP00000504701.1:p.Arg21Gly | |
| ENST00000678190.1:c.208C>G | ENSP00000503824.1:p.Arg70Gly | |
| ENST00000678219.1:c.61C>G | ENSP00000504142.1:p.Arg21Gly | |
| ENST00000678282.1:n.81+1725C>G | ||
| ENST00000678297.1:c.469C>G | ENSP00000503472.1:p.Arg157Gly | |
| ENST00000678861.1:c.61C>G | ENSP00000502932.1:p.Arg21Gly | |
| ENST00000299697.11:c.760C>G | ENSP00000299697.8:p.Arg254Gly | |
| ENST00000417693.7:c.832C>G | ENSP00000407469.4:p.Arg278Gly | |
| ENST00000451102.6:c.886C>G | ENSP00000414334.3:p.Arg296Gly | |
| ENST00000525974.5:c.469C>G | ENSP00000434594.1:p.Arg157Gly | |
| ENST00000527284.5:c.667C>G | ENSP00000435312.1:p.Arg223Gly | |
| ENST00000527800.5:c.469C>G | ENSP00000433770.1:p.Arg157Gly | |
| ENST00000544898.5:c.760C>G | ENSP00000440898.2:p.Arg254Gly | |
| ENST00000545043.6:c.685C>G | ENSP00000438143.2:p.Arg229Gly | |
| ENST00000561527.5:n.258+1725C>G | ||
| ENST00000561728.1:c.148+1725C>G | ||
| ENST00000561905.2:c.53+1725C>G | ||
| ENST00000562552.5:n.576C>G | ||
| ENST00000563099.5:n.287C>G | ||
| ENST00000563369.6:c.469C>G | ENSP00000463560.1:p.Arg157Gly | |
| ENST00000564792.1:n.415C>G | ||
| ENST00000564917.5:c.811C>G | ENSP00000455187.1:p.Arg271Gly | |
| ENST00000567357.5:c.*618C>G | ENSP00000457959.1:n.*618C>G | |
| ENST00000569718.5:c.485C>G | ||
| ENST00000620035.4:c.706C>G | ENSP00000483833.1:p.Arg236Gly | |
| NM_001172643.1:c.667C>G | NP_001166114.1:p.Arg223Gly | |
| NM_001172644.1:c.685C>G | NP_001166115.1:p.Arg229Gly | |
| NM_001172645.1:c.706C>G | NP_001166116.1:p.Arg236Gly | |
| NM_001271934.1:c.613C>G | NP_001258863.1:p.Arg205Gly | |
| NM_001271935.1:c.*57C>G | NP_001258864.1:n.*57C>G | |
| NM_001272050.1:c.469C>G | NP_001258979.1:p.Arg157Gly | |
| NM_004614.4:c.760C>G | NP_004605.4:p.Arg254Gly | |
| NR_073520.1:n.2039C>G | ||
| NM_001172644.2:c.685C>G | NP_001166115.1:p.Arg229Gly | |
| NM_001271934.2:c.613C>G | NP_001258863.1:p.Arg205Gly | |
| NM_001272050.2:c.469C>G | NP_001258979.1:p.Arg157Gly | |
| NM_004614.5:c.760C>G MANE Select | NP_004605.4:p.Arg254Gly | |
| NR_073520.2:n.1749C>G | ||
| NM_001172645.2:c.706C>G | NP_001166116.1:p.Arg236Gly |