Revel Score:
ENST00000299697
0.668
ENST00000417693
0.668
ENST00000545043
0.668
ENST00000451102
0.668
ENST00000527800
0.668
ENST00000527284
0.668
ENST00000544898 (MANE Select)
0.668
ENST00000525974
0.668
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66531421A>T , CM000678.2:g.66531421A>T | GRCh38 |
| NC_000016.9:g.66565324A>T , CM000678.1:g.66565324A>T | GRCh37 |
| NC_000016.8:g.65122825A>T | NCBI36 |
| NG_016862.1:g.23992T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.166T>A | ENSP00000299697.9:p.Tyr56Asn | |
| ENST00000417693.8:c.280T>A | ENSP00000407469.5:p.Tyr94Asn | |
| ENST00000451102.7:c.241T>A | ENSP00000414334.4:p.Tyr81Asn | |
| ENST00000527284.6:c.278T>A | ||
| ENST00000527800.6:c.43T>A | ENSP00000433770.1:p.Tyr15Asn | |
| ENST00000544898.6:c.334T>A MANE Select | ENSP00000440898.2:p.Tyr112Asn | |
| ENST00000567357.6:c.*192T>A | ENSP00000457959.2:n.*192T>A | |
| ENST00000569718.6:c.241T>A | ENSP00000464313.2:p.Tyr81Asn | |
| ENST00000620035.5:c.259T>A | ENSP00000483833.2:p.Tyr87Asn | |
| ENST00000676538.1:c.33-13544T>A | ||
| ENST00000677379.1:c.49T>A | ENSP00000503672.1:p.Tyr17Asn | |
| ENST00000677420.1:c.43T>A | ENSP00000504648.1:p.Tyr15Asn | |
| ENST00000677497.1:n.221T>A | ||
| ENST00000677555.1:c.43T>A | ENSP00000503331.1:p.Tyr15Asn | |
| ENST00000677715.1:c.43T>A | ENSP00000502950.1:p.Tyr15Asn | |
| ENST00000677739.1:c.55-2354T>A | ENSP00000504644.1:n.55-2354T>A | |
| ENST00000678015.1:c.43T>A | ENSP00000502959.1:p.Tyr15Asn | |
| ENST00000678297.1:c.43T>A | ENSP00000503472.1:p.Tyr15Asn | |
| ENST00000678314.1:c.43T>A | ENSP00000504438.1:p.Tyr15Asn | |
| ENST00000678746.1:c.224T>A | ENSP00000503227.1:n.224T>A | |
| ENST00000679154.1:c.81T>A | ||
| ENST00000299697.11:c.334T>A | ENSP00000299697.8:p.Tyr112Asn | |
| ENST00000417693.7:c.406T>A | ENSP00000407469.4:p.Tyr136Asn | |
| ENST00000451102.6:c.460T>A | ENSP00000414334.3:p.Tyr154Asn | |
| ENST00000525974.5:c.43T>A | ENSP00000434594.1:p.Tyr15Asn | |
| ENST00000527284.5:c.241T>A | ENSP00000435312.1:p.Tyr81Asn | |
| ENST00000527800.5:c.43T>A | ENSP00000433770.1:p.Tyr15Asn | |
| ENST00000544898.5:c.334T>A | ENSP00000440898.2:p.Tyr112Asn | |
| ENST00000545043.6:c.259T>A | ENSP00000438143.2:p.Tyr87Asn | |
| ENST00000562484.2:c.43T>A | ENSP00000463326.1:p.Tyr15Asn | |
| ENST00000563369.6:c.43T>A | ENSP00000463560.1:p.Tyr15Asn | |
| ENST00000563478.5:c.43T>A | ENSP00000462341.1:p.Tyr15Asn | |
| ENST00000564917.5:c.334T>A | ENSP00000455187.1:p.Tyr112Asn | |
| ENST00000567357.5:c.*192T>A | ENSP00000457959.1:n.*192T>A | |
| ENST00000569718.5:c.228T>A | ||
| ENST00000620035.4:c.280T>A | ENSP00000483833.1:p.Tyr94Asn | |
| NM_001172643.1:c.241T>A | NP_001166114.1:p.Tyr81Asn | |
| NM_001172644.1:c.259T>A | NP_001166115.1:p.Tyr87Asn | |
| NM_001172645.1:c.280T>A | NP_001166116.1:p.Tyr94Asn | |
| NM_001271934.1:c.187T>A | NP_001258863.1:p.Tyr63Asn | |
| NM_001271935.1:c.241T>A | NP_001258864.1:p.Tyr81Asn | |
| NM_001272050.1:c.43T>A | NP_001258979.1:p.Tyr15Asn | |
| NM_004614.4:c.334T>A | NP_004605.4:p.Tyr112Asn | |
| NR_073520.1:n.1613T>A | ||
| NM_001172644.2:c.259T>A | NP_001166115.1:p.Tyr87Asn | |
| NM_001271934.2:c.187T>A | NP_001258863.1:p.Tyr63Asn | |
| NM_001272050.2:c.43T>A | NP_001258979.1:p.Tyr15Asn | |
| NM_004614.5:c.334T>A MANE Select | NP_004605.4:p.Tyr112Asn | |
| NR_073520.2:n.1323T>A | ||
| NM_001172645.2:c.280T>A | NP_001166116.1:p.Tyr94Asn |