Revel Score:
ENST00000256216
0.899
ENST00000515320
0.899
ENST00000510025 (MANE Select)
0.899
ENST00000504811
0.899
ENST00000414835
0.899
ENST00000513628
0.899
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
7.9e-7 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119493897G>T , CM000667.2:g.119493897G>T | GRCh38 |
| NC_000005.9:g.118829592G>T , CM000667.1:g.118829592G>T | GRCh37 |
| NC_000005.8:g.118857491G>T | NCBI36 |
| NG_008182.1:g.46445G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.819G>T | ENSP00000426272.2:p.Trp273Cys | |
| ENST00000518349.6:c.113-2646G>T | ENSP00000507185.1:n.113-2646G>T | |
| ENST00000682445.1:c.*700G>T | ENSP00000508061.1:n.*700G>T | |
| ENST00000682531.1:n.2613G>T | ||
| ENST00000682626.1:c.*325G>T | ENSP00000507857.1:n.*325G>T | |
| ENST00000682996.1:c.819G>T | ENSP00000507792.1:p.Trp273Cys | |
| ENST00000683265.1:n.2605G>T | ||
| ENST00000683371.1:c.*949G>T | ENSP00000508376.1:n.*949G>T | |
| ENST00000683372.1:n.2829G>T | ||
| ENST00000683390.1:n.2509G>T | ||
| ENST00000683549.1:n.2433G>T | ||
| ENST00000683936.1:c.*2397G>T | ENSP00000507721.1:n.*2397G>T | |
| ENST00000683974.1:n.2594G>T | ||
| ENST00000683996.1:c.408G>T | ENSP00000507060.1:p.Trp136Cys | |
| ENST00000684131.1:n.2351G>T | ||
| ENST00000684160.1:c.*509G>T | ENSP00000507821.1:n.*509G>T | |
| ENST00000684214.1:c.819G>T | ENSP00000508071.1:p.Trp273Cys | |
| ENST00000414835.7:c.894G>T | ENSP00000411960.3:p.Trp298Cys | |
| ENST00000510025.7:c.819G>T MANE Select | ENSP00000424940.3:p.Trp273Cys | |
| ENST00000643250.1:c.*691G>T | ENSP00000494737.1:n.*691G>T | |
| ENST00000644146.1:c.*2090G>T | ENSP00000494808.1:n.*2090G>T | |
| ENST00000645099.1:c.378G>T | ENSP00000496091.1:p.Trp126Cys | |
| ENST00000645702.1:c.*222G>T | ENSP00000496432.1:n.*222G>T | |
| ENST00000645832.1:c.*704G>T | ENSP00000494316.1:n.*704G>T | |
| ENST00000646058.1:c.819G>T | ENSP00000493579.1:p.Trp273Cys | |
| ENST00000646355.1:c.*825G>T | ENSP00000493801.1:n.*825G>T | |
| ENST00000646554.1:c.*797G>T | ENSP00000494542.1:n.*797G>T | |
| ENST00000647335.1:c.*786G>T | ENSP00000495180.1:n.*786G>T | |
| ENST00000647342.1:c.*750G>T | ENSP00000494992.1:n.*750G>T | |
| ENST00000256216.10:c.819G>T | ENSP00000256216.6:p.Trp273Cys | |
| ENST00000414835.6:c.399G>T | ENSP00000411960.2:p.Trp133Cys | |
| ENST00000442060.7:c.819G>T | ENSP00000390208.3:p.Trp273Cys | |
| ENST00000504811.5:c.894G>T | ENSP00000420914.1:p.Trp298Cys | |
| ENST00000509514.5:c.-66G>T | ENSP00000426272.1:n.-66G>T | |
| ENST00000510025.5:c.747G>T | ENSP00000424940.1:p.Trp249Cys | |
| ENST00000513628.5:c.408G>T | ENSP00000425993.1:p.Trp136Cys | |
| ENST00000515235.6:n.2572G>T | ||
| ENST00000515320.5:c.765G>T | ENSP00000424613.1:p.Trp255Cys | |
| ENST00000520216.5:n.80G>T | ||
| NM_000414.3:c.819G>T | NP_000405.1:p.Trp273Cys | |
| NM_001199291.2:c.894G>T | NP_001186220.1:p.Trp298Cys | |
| NM_001199292.1:c.765G>T | NP_001186221.1:p.Trp255Cys | |
| NM_001292027.1:c.747G>T | NP_001278956.1:p.Trp249Cys | |
| NM_001292028.1:c.399G>T | NP_001278957.1:p.Trp133Cys | |
| NM_000414.4:c.819G>T MANE Select | NP_000405.1:p.Trp273Cys | |
| NM_001199291.3:c.894G>T | NP_001186220.1:p.Trp298Cys | |
| NM_001199292.2:c.765G>T | NP_001186221.1:p.Trp255Cys | |
| NM_001292027.2:c.747G>T | NP_001278956.1:p.Trp249Cys | |
| NM_001292028.2:c.399G>T | NP_001278957.1:p.Trp133Cys | |
| NM_001374497.1:c.810G>T | NP_001361426.1:p.Trp270Cys | |
| NM_001374498.1:c.819G>T | NP_001361427.1:p.Trp273Cys | |
| NM_001374499.1:c.492G>T | NP_001361428.1:p.Trp164Cys | |
| NM_001374500.1:c.378G>T | NP_001361429.1:p.Trp126Cys | |
| NM_001374501.1:c.408G>T | NP_001361430.1:p.Trp136Cys | |
| NM_001374502.1:c.408G>T | NP_001361431.1:p.Trp136Cys | |
| NM_001374503.1:c.408G>T | NP_001361432.1:p.Trp136Cys | |
| NR_164653.1:n.916G>T | ||
| NR_164654.1:n.1086G>T |