Revel Score:
ENST00000409709 (MANE Select)
0.824
ENST00000458637
0.824
ENST00000409619
0.824
ENST00000545136
0.824
ENST00000358342
0.824
ENST00000343356
0.824
ENST00000341717
0.824
ENST00000458169
0.824
ENST00000544424
0.824
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000699 (NFE)
Exomes Max Group AF
0.00000663 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77205475C>T , CM000673.2:g.77205475C>T | GRCh38 |
| NC_000011.9:g.76916520C>T , CM000673.1:g.76916520C>T | GRCh37 |
| NC_000011.8:g.76594168C>T | NCBI36 |
| NG_009086.1:g.82211C>T | |
| NG_009086.2:g.82230C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5494C>T MANE Select | ENSP00000386331.3:p.Arg1832Trp | |
| ENST00000670577.1:c.3321C>T | ||
| ENST00000409619.6:c.5347C>T | ENSP00000386635.2:p.Arg1783Trp | |
| ENST00000409709.7:c.5494C>T | ENSP00000386331.3:p.Arg1832Trp | |
| ENST00000458169.2:c.2920C>T | ENSP00000417017.2:p.Arg974Trp | |
| ENST00000458637.6:c.5380C>T | ENSP00000392185.2:p.Arg1794Trp | |
| ENST00000481328.7:n.3030C>T | ||
| ENST00000605744.1:n.187-72C>T | ||
| NM_000260.3:c.5494C>T | NP_000251.3:p.Arg1832Trp | |
| NM_001127180.1:c.5380C>T | NP_001120652.1:p.Arg1794Trp | |
| XM_005274012.2:c.5377C>T | XP_005274069.1:p.Arg1793Trp | |
| XM_006718558.2:c.5485C>T | XP_006718621.1:p.Arg1829Trp | |
| XM_006718559.2:c.5380C>T | XP_006718622.1:p.Arg1794Trp | |
| XM_006718560.2:c.5377C>T | XP_006718623.1:p.Arg1793Trp | |
| XM_006718561.2:c.5380C>T | XP_006718624.1:p.Arg1794Trp | |
| XM_011545044.1:c.5494C>T | XP_011543346.1:p.Arg1832Trp | |
| XM_011545045.1:c.5488C>T | XP_011543347.1:p.Arg1830Trp | |
| XM_011545046.1:c.5461C>T | XP_011543348.1:p.Arg1821Trp | |
| XM_011545047.1:c.5398C>T | XP_011543349.1:p.Arg1800Trp | |
| XM_011545048.1:c.5269C>T | XP_011543350.1:p.Arg1757Trp | |
| XM_011545049.1:c.5257C>T | XP_011543351.1:p.Arg1753Trp | |
| XM_011545050.1:c.5230C>T | XP_011543352.1:p.Arg1744Trp | |
| XM_011545051.1:c.5494C>T | XP_011543353.1:p.Arg1832Trp | |
| XM_011545052.1:c.5481-72C>T | XP_011543354.1:n.5481-72C>T | |
| XR_949938.1:n.5814C>T | ||
| XR_949941.1:n.5814C>T | ||
| XR_949942.1:n.5789-72C>T | ||
| XM_011545044.2:c.5494C>T | XP_011543346.1:p.Arg1832Trp | |
| XM_011545046.2:c.5584C>T | XP_011543348.2:p.Arg1862Trp | |
| XM_011545050.2:c.5230C>T | XP_011543352.1:p.Arg1744Trp | |
| XM_017017778.1:c.5578C>T | XP_016873267.1:p.Arg1860Trp | |
| XM_017017779.1:c.5575C>T | XP_016873268.1:p.Arg1859Trp | |
| XM_017017780.1:c.5584C>T | XP_016873269.1:p.Arg1862Trp | |
| XM_017017781.1:c.5488C>T | XP_016873270.1:p.Arg1830Trp | |
| XM_017017782.1:c.5470C>T | XP_016873271.1:p.Arg1824Trp | |
| XM_017017783.1:c.5467C>T | XP_016873272.1:p.Arg1823Trp | |
| XM_017017784.1:c.5467C>T | XP_016873273.1:p.Arg1823Trp | |
| XM_017017785.1:c.5347C>T | XP_016873274.1:p.Arg1783Trp | |
| XM_017017786.1:c.5584C>T | XP_016873275.1:p.Arg1862Trp | |
| XM_017017788.1:c.5470C>T | XP_016873277.1:p.Arg1824Trp | |
| XR_001747885.1:n.5599C>T | ||
| XR_001747886.1:n.5586-72C>T | ||
| XR_001747887.1:n.5585C>T | ||
| XR_001747888.1:n.5572-72C>T | ||
| NM_000260.4:c.5494C>T MANE Select | NP_000251.3:p.Arg1832Trp | |
| NM_001127180.2:c.5380C>T | NP_001120652.1:p.Arg1794Trp | |
| NM_001369365.1:c.5347C>T | NP_001356294.1:p.Arg1783Trp |