Revel Score:
ENST00000299697
0.654
ENST00000417693
0.654
ENST00000545043
0.654
ENST00000451102
0.654
ENST00000527800
0.654
ENST00000527284
0.654
ENST00000544898 (MANE Select)
0.654
ENST00000525974
0.654
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66529054C>T , CM000678.2:g.66529054C>T | GRCh38 |
| NC_000016.9:g.66562957C>T , CM000678.1:g.66562957C>T | GRCh37 |
| NC_000016.8:g.65120458C>T | NCBI36 |
| NG_016862.1:g.26359G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.221G>A | ENSP00000299697.9:p.Arg74Gln | |
| ENST00000417693.8:c.335G>A | ENSP00000407469.5:p.Arg112Gln | |
| ENST00000451102.7:c.296G>A | ENSP00000414334.4:p.Arg99Gln | |
| ENST00000527284.6:c.333G>A | ||
| ENST00000527800.6:c.98G>A | ENSP00000433770.1:p.Arg33Gln | |
| ENST00000544898.6:c.389G>A MANE Select | ENSP00000440898.2:p.Arg130Gln | |
| ENST00000567357.6:c.*247G>A | ENSP00000457959.2:n.*247G>A | |
| ENST00000569718.6:c.296G>A | ENSP00000464313.2:p.Arg99Gln | |
| ENST00000620035.5:c.314G>A | ENSP00000483833.2:p.Arg105Gln | |
| ENST00000676538.1:c.33-11177G>A | ||
| ENST00000677379.1:c.90+2326G>A | ENSP00000503672.1:n.90+2326G>A | |
| ENST00000677420.1:c.98G>A | ENSP00000504648.1:p.Arg33Gln | |
| ENST00000677555.1:c.98G>A | ENSP00000503331.1:p.Arg33Gln | |
| ENST00000677715.1:c.98G>A | ENSP00000502950.1:p.Arg33Gln | |
| ENST00000677739.1:c.68G>A | ENSP00000504644.1:p.Arg23Gln | |
| ENST00000678015.1:c.98G>A | ENSP00000502959.1:p.Arg33Gln | |
| ENST00000678297.1:c.98G>A | ENSP00000503472.1:p.Arg33Gln | |
| ENST00000678314.1:c.98G>A | ENSP00000504438.1:p.Arg33Gln | |
| ENST00000678746.1:c.279G>A | ENSP00000503227.1:n.279G>A | |
| ENST00000299697.11:c.389G>A | ENSP00000299697.8:p.Arg130Gln | |
| ENST00000417693.7:c.461G>A | ENSP00000407469.4:p.Arg154Gln | |
| ENST00000451102.6:c.515G>A | ENSP00000414334.3:p.Arg172Gln | |
| ENST00000525974.5:c.98G>A | ENSP00000434594.1:p.Arg33Gln | |
| ENST00000527284.5:c.296G>A | ENSP00000435312.1:p.Arg99Gln | |
| ENST00000527800.5:c.98G>A | ENSP00000433770.1:p.Arg33Gln | |
| ENST00000544898.5:c.389G>A | ENSP00000440898.2:p.Arg130Gln | |
| ENST00000545043.6:c.314G>A | ENSP00000438143.2:p.Arg105Gln | |
| ENST00000562484.2:c.98G>A | ENSP00000463326.1:p.Arg33Gln | |
| ENST00000563369.6:c.98G>A | ENSP00000463560.1:p.Arg33Gln | |
| ENST00000563478.5:c.98G>A | ENSP00000462341.1:p.Arg33Gln | |
| ENST00000564917.5:c.389G>A | ENSP00000455187.1:p.Arg130Gln | |
| ENST00000567357.5:c.*247G>A | ENSP00000457959.1:n.*247G>A | |
| ENST00000569718.5:c.283G>A | ||
| ENST00000620035.4:c.335G>A | ENSP00000483833.1:p.Arg112Gln | |
| NM_001172643.1:c.296G>A | NP_001166114.1:p.Arg99Gln | |
| NM_001172644.1:c.314G>A | NP_001166115.1:p.Arg105Gln | |
| NM_001172645.1:c.335G>A | NP_001166116.1:p.Arg112Gln | |
| NM_001271934.1:c.242G>A | NP_001258863.1:p.Arg81Gln | |
| NM_001271935.1:c.296G>A | NP_001258864.1:p.Arg99Gln | |
| NM_001272050.1:c.98G>A | NP_001258979.1:p.Arg33Gln | |
| NM_004614.4:c.389G>A | NP_004605.4:p.Arg130Gln | |
| NR_073520.1:n.1668G>A | ||
| NM_001172644.2:c.314G>A | NP_001166115.1:p.Arg105Gln | |
| NM_001271934.2:c.242G>A | NP_001258863.1:p.Arg81Gln | |
| NM_001272050.2:c.98G>A | NP_001258979.1:p.Arg33Gln | |
| NM_004614.5:c.389G>A MANE Select | NP_004605.4:p.Arg130Gln | |
| NR_073520.2:n.1378G>A | ||
| NM_001172645.2:c.335G>A | NP_001166116.1:p.Arg112Gln |