Revel Score:
ENST00000268097 (MANE Select)
0.888
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345477G>A , CM000677.2:g.72345477G>A | GRCh38 |
| NC_000015.9:g.72637818G>A , CM000677.1:g.72637818G>A | GRCh37 |
| NC_000015.8:g.70424872G>A | NCBI36 |
| NG_009017.1:g.35703C>T | |
| NG_009017.2:g.35703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*155C>T | ENSP00000457521.2:n.*155C>T | |
| ENST00000682061.1:c.*1841C>T | ENSP00000508316.1:n.*1841C>T | |
| ENST00000682064.1:n.1722C>T | ||
| ENST00000682177.1:c.1538C>T | ENSP00000507409.1:n.1538C>T | |
| ENST00000682235.1:n.1518C>T | ||
| ENST00000682461.1:c.1601C>T | ENSP00000507308.1:n.1601C>T | |
| ENST00000682653.1:n.2499C>T | ||
| ENST00000682657.1:c.*1332C>T | ENSP00000507753.1:n.*1332C>T | |
| ENST00000682721.1:c.*1298C>T | ENSP00000507535.1:n.*1298C>T | |
| ENST00000682843.1:c.*1136C>T | ENSP00000508173.1:n.*1136C>T | |
| ENST00000683003.1:c.*1332C>T | ENSP00000507576.1:n.*1332C>T | |
| ENST00000683133.1:c.1679C>T | ENSP00000508108.1:n.1679C>T | |
| ENST00000683243.1:c.*648C>T | ENSP00000507042.1:n.*648C>T | |
| ENST00000683463.1:c.*984C>T | ENSP00000507986.1:n.*984C>T | |
| ENST00000683548.1:n.1953C>T | ||
| ENST00000683579.1:c.*1393C>T | ENSP00000506867.1:n.*1393C>T | |
| ENST00000683587.1:n.2026C>T | ||
| ENST00000683681.1:c.*173C>T | ENSP00000508110.1:n.*173C>T | |
| ENST00000683735.1:c.*1893C>T | ENSP00000508336.1:n.*1893C>T | |
| ENST00000683853.1:c.*300C>T | ENSP00000506834.1:n.*300C>T | |
| ENST00000683860.1:c.*615C>T | ENSP00000507179.1:n.*615C>T | |
| ENST00000683884.1:c.*822C>T | ENSP00000507004.1:n.*822C>T | |
| ENST00000684041.1:c.*628C>T | ENSP00000508382.1:n.*628C>T | |
| ENST00000684125.1:c.*155C>T | ENSP00000507320.1:n.*155C>T | |
| ENST00000684203.1:n.3944C>T | ||
| ENST00000684231.1:c.*905C>T | ENSP00000507748.1:n.*905C>T | |
| ENST00000684263.1:c.*1119C>T | ENSP00000508369.1:n.*1119C>T | |
| ENST00000684305.1:c.1943C>T | ENSP00000506819.1:n.1943C>T | |
| ENST00000684415.1:c.*1046C>T | ENSP00000507227.1:n.*1046C>T | |
| ENST00000684520.1:c.*754C>T | ENSP00000506826.1:n.*754C>T | |
| ENST00000684602.1:c.*1161C>T | ENSP00000507996.1:n.*1161C>T | |
| ENST00000684667.1:c.1826C>T | ENSP00000507003.1:n.1826C>T | |
| ENST00000268097.10:c.1495C>T MANE Select | ENSP00000268097.6:p.Arg499Cys | |
| ENST00000268097.9:c.1495C>T | ENSP00000268097.5:p.Arg499Cys | |
| ENST00000379915.4:c.577C>T | ENSP00000478716.1:p.Arg193Cys | |
| ENST00000564677.5:n.287C>T | ||
| ENST00000565873.1:n.406C>T | ||
| ENST00000566304.5:c.1528C>T | ENSP00000455114.1:p.Arg510Cys | |
| ENST00000567027.5:c.1110C>T | ||
| ENST00000567159.5:c.1495C>T | ENSP00000456489.1:p.Arg499Cys | |
| ENST00000567411.5:c.*1016C>T | ENSP00000455545.1:n.*1016C>T | |
| ENST00000568777.5:n.6715C>T | ||
| ENST00000569116.1:n.202C>T | ||
| NM_000520.4:c.1495C>T | NP_000511.2:p.Arg499Cys | |
| NM_000520.5:c.1495C>T | NP_000511.2:p.Arg499Cys | |
| NM_001318825.1:c.1528C>T | NP_001305754.1:p.Arg510Cys | |
| NR_134869.1:n.1739C>T | ||
| NM_000520.6:c.1495C>T MANE Select | NP_000511.2:p.Arg499Cys | |
| NM_001318825.2:c.1528C>T | NP_001305754.1:p.Arg510Cys | |
| NR_134869.2:n.1280C>T | ||
| NR_134869.3:n.1280C>T |