ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000103 (NFE)
Genomes Max Group AF
0.0000117 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
Revel Score:
ENST00000299697
0.965
ENST00000417693
0.965
ENST00000545043
0.965
ENST00000451102
0.965
ENST00000527800
0.965
ENST00000527284
0.965
ENST00000544898 (MANE Select)
0.965
ENST00000525974
0.965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66517858C>A , CM000678.2:g.66517858C>A | GRCh38 |
| NC_000016.9:g.66551761C>A , CM000678.1:g.66551761C>A | GRCh37 |
| NC_000016.8:g.65109262C>A | NCBI36 |
| NG_016862.1:g.37555G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.301G>T | ENSP00000299697.9:p.Asp101Tyr | |
| ENST00000417693.8:c.415G>T | ENSP00000407469.5:p.Asp139Tyr | |
| ENST00000451102.7:c.376G>T | ENSP00000414334.4:p.Asp126Tyr | |
| ENST00000527284.6:c.413G>T | ||
| ENST00000527800.6:c.178G>T | ENSP00000433770.1:p.Asp60Tyr | |
| ENST00000544898.6:c.469G>T MANE Select | ENSP00000440898.2:p.Asp157Tyr | |
| ENST00000567357.6:c.*327G>T | ENSP00000457959.2:n.*327G>T | |
| ENST00000569718.6:c.357-4047G>T | ENSP00000464313.2:n.357-4047G>T | |
| ENST00000620035.5:c.375-4047G>T | ENSP00000483833.2:n.375-4047G>T | |
| ENST00000676538.1:c.52G>T | ||
| ENST00000676718.1:n.50G>T | ||
| ENST00000676904.1:c.20G>T | ||
| ENST00000677379.1:c.110G>T | ENSP00000503672.1:p.Gly37Val | |
| ENST00000677420.1:c.178G>T | ENSP00000504648.1:p.Asp60Tyr | |
| ENST00000677555.1:c.178G>T | ENSP00000503331.1:p.Asp60Tyr | |
| ENST00000677715.1:c.178G>T | ENSP00000502950.1:p.Asp60Tyr | |
| ENST00000678015.1:c.178G>T | ENSP00000502959.1:p.Asp60Tyr | |
| ENST00000678297.1:c.178G>T | ENSP00000503472.1:p.Asp60Tyr | |
| ENST00000678314.1:c.178G>T | ENSP00000504438.1:p.Asp60Tyr | |
| ENST00000679306.1:n.50G>T | ||
| ENST00000299697.11:c.469G>T | ENSP00000299697.8:p.Asp157Tyr | |
| ENST00000417693.7:c.541G>T | ENSP00000407469.4:p.Asp181Tyr | |
| ENST00000451102.6:c.595G>T | ENSP00000414334.3:p.Asp199Tyr | |
| ENST00000525974.5:c.178G>T | ENSP00000434594.1:p.Asp60Tyr | |
| ENST00000527284.5:c.376G>T | ENSP00000435312.1:p.Asp126Tyr | |
| ENST00000527800.5:c.178G>T | ENSP00000433770.1:p.Asp60Tyr | |
| ENST00000544898.5:c.469G>T | ENSP00000440898.2:p.Asp157Tyr | |
| ENST00000545043.6:c.394G>T | ENSP00000438143.2:p.Asp132Tyr | |
| ENST00000562484.2:c.178G>T | ENSP00000463326.1:p.Asp60Tyr | |
| ENST00000562552.5:n.285G>T | ||
| ENST00000563369.6:c.178G>T | ENSP00000463560.1:p.Asp60Tyr | |
| ENST00000563478.5:c.178G>T | ENSP00000462341.1:p.Asp60Tyr | |
| ENST00000564792.1:n.124G>T | ||
| ENST00000564917.5:c.469G>T | ENSP00000455187.1:p.Asp157Tyr | |
| ENST00000567357.5:c.*327G>T | ENSP00000457959.1:n.*327G>T | |
| ENST00000569718.5:c.344-4047G>T | ||
| ENST00000620035.4:c.415G>T | ENSP00000483833.1:p.Asp139Tyr | |
| NM_001172643.1:c.376G>T | NP_001166114.1:p.Asp126Tyr | |
| NM_001172644.1:c.394G>T | NP_001166115.1:p.Asp132Tyr | |
| NM_001172645.1:c.415G>T | NP_001166116.1:p.Asp139Tyr | |
| NM_001271934.1:c.322G>T | NP_001258863.1:p.Asp108Tyr | |
| NM_001271935.1:c.357-4047G>T | NP_001258864.1:n.357-4047G>T | |
| NM_001272050.1:c.178G>T | NP_001258979.1:p.Asp60Tyr | |
| NM_004614.4:c.469G>T | NP_004605.4:p.Asp157Tyr | |
| NR_073520.1:n.1748G>T | ||
| NM_001172644.2:c.394G>T | NP_001166115.1:p.Asp132Tyr | |
| NM_001271934.2:c.322G>T | NP_001258863.1:p.Asp108Tyr | |
| NM_001272050.2:c.178G>T | NP_001258979.1:p.Asp60Tyr | |
| NM_004614.5:c.469G>T MANE Select | NP_004605.4:p.Asp157Tyr | |
| NR_073520.2:n.1458G>T | ||
| NM_001172645.2:c.415G>T | NP_001166116.1:p.Asp139Tyr |