Revel Score:
ENST00000219251
0.109
ENST00000393919
0.109
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002549 (AFR)
Exomes Max Group AF
0.00005849 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67657778G>A , CM000678.2:g.67657778G>A | GRCh38 |
| NC_000016.9:g.67691681G>A , CM000678.1:g.67691681G>A | GRCh37 |
| NC_000016.8:g.66249182G>A | NCBI36 |
| NG_042874.1:g.8038C>T | |
| NG_054728.1:g.17860G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602382.6:c.948C>T | ENSP00000473313.2:p.Leu316= | |
| ENST00000602780.2:n.2287C>T | ||
| ENST00000602860.6:n.2202C>T | ||
| ENST00000695641.1:n.2391C>T | ||
| ENST00000695648.1:c.1264C>T | ENSP00000512081.1:p.Arg422Trp | |
| ENST00000695656.1:n.2242C>T | ||
| ENST00000695657.1:n.1600C>T | ||
| ENST00000695658.1:c.1105C>T | ENSP00000512088.1:p.Arg369Trp | |
| ENST00000695659.1:c.1300C>T | ENSP00000512089.1:p.Arg434Trp | |
| ENST00000695662.1:c.*761C>T | ENSP00000512091.1:n.*761C>T | |
| ENST00000695694.1:c.1237C>T | ENSP00000512105.1:p.Arg413Trp | |
| ENST00000695695.1:n.1348C>T | ||
| ENST00000695696.1:n.1329C>T | ||
| ENST00000695697.1:c.1195C>T | ENSP00000512106.1:p.Arg399Trp | |
| ENST00000695698.1:n.1532C>T | ||
| ENST00000695699.1:n.1702C>T | ||
| ENST00000695709.1:n.557C>T | ||
| ENST00000695710.1:n.1916C>T | ||
| ENST00000695711.1:c.*590C>T | ENSP00000512109.1:n.*590C>T | |
| ENST00000695712.1:c.*1032C>T | ENSP00000512110.1:n.*1032C>T | |
| ENST00000695731.1:c.605C>T | ||
| ENST00000695732.1:c.721C>T | ENSP00000512125.1:p.Arg241Trp | |
| ENST00000695733.1:c.861C>T | ENSP00000512126.1:p.Leu287= | |
| ENST00000695734.1:c.1282C>T | ENSP00000512127.1:p.Arg428Trp | |
| ENST00000219251.13:c.1273C>T | ENSP00000219251.8:p.Arg425Trp | |
| ENST00000620761.6:c.1282C>T MANE Select | ENSP00000478084.1:p.Arg428Trp | |
| ENST00000219251.12:c.1531C>T | ENSP00000219251.7:p.Arg511Trp | |
| ENST00000393919.8:c.1540C>T | ENSP00000377496.4:p.Arg514Trp | |
| ENST00000602320.1:c.1234C>T | ENSP00000473679.2:p.Arg412Trp | |
| ENST00000602382.5:c.490C>T | ||
| ENST00000602622.5:n.2281C>T | ||
| ENST00000602656.1:n.546C>T | ||
| ENST00000602860.5:n.1720C>T | ||
| ENST00000620338.4:c.1540C>T | ENSP00000483117.1:p.Arg514Trp | |
| ENST00000620761.4:c.1282C>T | ENSP00000478084.1:p.Arg428Trp | |
| NM_001082486.1:c.1540C>T | NP_001075955.1:p.Arg514Trp | |
| NM_001082487.1:c.1492C>T | NP_001075956.1:p.Arg498Trp | |
| NM_022914.2:c.1531C>T | NP_075065.2:p.Arg511Trp | |
| XM_005256115.2:c.1453C>T | XP_005256172.1:p.Arg485Trp | |
| NM_001082486.2:c.1282C>T MANE Select | NP_001075955.2:p.Arg428Trp | |
| NM_022914.3:c.1273C>T | NP_075065.3:p.Arg425Trp | |
| XM_005256115.4:c.1453C>T | XP_005256172.1:p.Arg485Trp |