Revel Score:
ENST00000458283
0.296
ENST00000413170
0.296
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.0000081 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100425674G>A , CM000675.2:g.100425674G>A | GRCh38 |
| NC_000013.10:g.101077928G>A , CM000675.1:g.101077928G>A | GRCh37 |
| NC_000013.9:g.99875929G>A | NCBI36 |
| NG_008768.1:g.341592G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.1788G>A MANE Select | ENSP00000365462.1:p.Trp596Ter | |
| ENST00000636366.1:c.986G>A | ||
| ENST00000636475.1:c.1303G>A | ||
| ENST00000637657.1:c.1448G>A | ||
| ENST00000647303.1:c.*1272G>A | ENSP00000495663.1:n.*1272G>A | |
| ENST00000376279.7:c.1788G>A | ENSP00000365456.3:p.Trp596Ter | |
| ENST00000376285.5:c.1788G>A | ENSP00000365462.1:p.Trp596Ter | |
| ENST00000376286.8:c.1710G>A | ENSP00000365463.4:p.Trp570Ter | |
| ENST00000413170.1:c.118G>A | ||
| ENST00000424527.5:c.390G>A | ENSP00000396050.1:p.Trp130Ter | |
| ENST00000458283.5:c.145G>A | ||
| NM_000282.3:c.1788G>A | NP_000273.2:p.Trp596Ter | |
| NM_001127692.2:c.1710G>A | NP_001121164.1:p.Trp570Ter | |
| NM_001178004.1:c.1788G>A | NP_001171475.1:p.Trp596Ter | |
| XM_005254059.2:c.1788G>A | XP_005254116.1:p.Trp596Ter | |
| XM_011521093.1:c.1788G>A | XP_011519395.1:p.Trp596Ter | |
| XR_931615.1:n.1786G>A | ||
| NM_001352605.1:c.1788G>A | NP_001339534.1:p.Trp596Ter | |
| NM_001352606.1:c.1644G>A | NP_001339535.1:p.Trp548Ter | |
| NM_001352607.1:c.1710G>A | NP_001339536.1:p.Trp570Ter | |
| NM_001352608.1:c.1566G>A | NP_001339537.1:p.Trp522Ter | |
| NM_001352609.1:c.1788G>A | NP_001339538.1:p.Trp596Ter | |
| NM_001352610.1:c.843G>A | NP_001339539.1:p.Trp281Ter | |
| NM_001352611.1:c.843G>A | NP_001339540.1:p.Trp281Ter | |
| NM_001352612.1:c.699G>A | NP_001339541.1:p.Trp233Ter | |
| NR_148027.1:n.1978G>A | ||
| NR_148028.1:n.1875G>A | ||
| NR_148029.1:n.1797G>A | ||
| NR_148030.1:n.1978G>A | ||
| NR_148031.1:n.1791G>A | ||
| XM_017020605.1:c.1788G>A | XP_016876094.1:p.Trp596Ter | |
| XM_017020606.1:c.1710G>A | XP_016876095.1:p.Trp570Ter | |
| XM_017020607.1:c.1689G>A | XP_016876096.1:p.Trp563Ter | |
| XM_017020609.1:c.1689G>A | XP_016876098.1:p.Trp563Ter | |
| XM_017020611.1:c.1788G>A | XP_016876100.1:p.Trp596Ter | |
| XM_017020612.1:c.1788G>A | XP_016876101.1:p.Trp596Ter | |
| XM_017020613.1:c.1788G>A | XP_016876102.1:p.Trp596Ter | |
| XR_001749567.1:n.1889G>A | ||
| XR_001749568.1:n.2055G>A | ||
| XR_001749569.1:n.2055G>A | ||
| XR_001749574.1:n.1824G>A | ||
| XR_001749576.1:n.1525G>A | ||
| XR_001749577.1:n.1422G>A | ||
| NM_000282.4:c.1788G>A MANE Select | NP_000273.2:p.Trp596Ter | |
| NM_001352605.2:c.1788G>A | NP_001339534.1:p.Trp596Ter | |
| NM_001352606.2:c.1644G>A | NP_001339535.1:p.Trp548Ter | |
| NM_001352607.2:c.1710G>A | NP_001339536.1:p.Trp570Ter | |
| NM_001352608.2:c.1566G>A | NP_001339537.1:p.Trp522Ter | |
| NM_001352609.2:c.1788G>A | NP_001339538.1:p.Trp596Ter | |
| NM_001352610.2:c.843G>A | NP_001339539.1:p.Trp281Ter | |
| NM_001352611.2:c.843G>A | NP_001339540.1:p.Trp281Ter | |
| NM_001352612.2:c.699G>A | NP_001339541.1:p.Trp233Ter | |
| NR_148027.2:n.1900G>A | ||
| NR_148028.2:n.1797G>A | ||
| NR_148029.2:n.1719G>A | ||
| NR_148030.2:n.1900G>A | ||
| NR_148031.2:n.1713G>A | ||
| NM_001127692.3:c.1710G>A | NP_001121164.1:p.Trp570Ter | |
| NM_001178004.2:c.1788G>A | NP_001171475.1:p.Trp596Ter |