Revel Score:
ENST00000527805
0.140
ENST00000278616
0.140
ENST00000452508
0.140
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108250931G>T , CM000673.2:g.108250931G>T | GRCh38 |
| NC_000011.9:g.108121658G>T , CM000673.1:g.108121658G>T | GRCh37 |
| NC_000011.8:g.107626868G>T | NCBI36 |
| NG_009830.1:g.33100G>T , LRG_135:g.33100G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.1466G>T | ENSP00000388058.2:p.Cys489Phe | |
| ENST00000713593.1:c.*937G>T | ENSP00000518889.1:n.*937G>T | |
| ENST00000278616.9:c.1466G>T | ENSP00000278616.4:p.Cys489Phe | |
| ENST00000682516.1:n.1600G>T | ||
| ENST00000682956.1:n.1600G>T | ||
| ENST00000683174.1:n.1616G>T | ||
| ENST00000683605.1:n.961G>T | ||
| ENST00000684037.1:c.*401G>T | ENSP00000508245.1:n.*401G>T | |
| ENST00000684061.1:n.1600G>T | ||
| ENST00000684179.1:n.1435G>T | ||
| ENST00000527805.6:c.1466G>T | ENSP00000435747.2:p.Cys489Phe | |
| ENST00000675595.1:c.1301G>T | ENSP00000502563.1:p.Cys434Phe | |
| ENST00000675843.1:c.1466G>T MANE Select | ENSP00000501606.1:p.Cys489Phe | |
| ENST00000278616.8:c.1466G>T | ENSP00000278616.4:p.Cys489Phe | |
| ENST00000452508.6:c.1466G>T | ENSP00000388058.2:p.Cys489Phe | |
| ENST00000527805.5:c.1466G>T | ENSP00000435747.1:p.Cys489Phe | |
| NM_000051.3:c.1466G>T , LRG_135t1:c.1466G>T | NP_000042.3:p.Cys489Phe | |
| XM_005271561.3:c.1466G>T | XP_005271618.2:p.Cys489Phe | |
| XM_005271562.3:c.1466G>T | XP_005271619.2:p.Cys489Phe | |
| XM_006718843.2:c.1466G>T | XP_006718906.1:p.Cys489Phe | |
| XM_011542840.1:c.1466G>T | XP_011541142.1:p.Cys489Phe | |
| XM_011542841.1:c.1466G>T | XP_011541143.1:p.Cys489Phe | |
| XM_011542842.1:c.1301G>T | XP_011541144.1:p.Cys434Phe | |
| XM_011542843.1:c.1466G>T | XP_011541145.1:p.Cys489Phe | |
| XM_011542844.1:c.422G>T | XP_011541146.1:p.Cys141Phe | |
| XM_011542845.1:c.158G>T | XP_011541147.1:p.Cys53Phe | |
| XM_011542846.1:c.1466G>T | XP_011541148.1:p.Cys489Phe | |
| NM_001351834.1:c.1466G>T | NP_001338763.1:p.Cys489Phe | |
| XM_005271562.5:c.1466G>T | XP_005271619.2:p.Cys489Phe | |
| XM_006718843.4:c.1466G>T | XP_006718906.1:p.Cys489Phe | |
| XM_011542840.3:c.1466G>T | XP_011541142.1:p.Cys489Phe | |
| XM_011542842.3:c.1301G>T | XP_011541144.1:p.Cys434Phe | |
| XM_011542843.2:c.1466G>T | XP_011541145.1:p.Cys489Phe | |
| XM_011542844.3:c.422G>T | XP_011541146.1:p.Cys141Phe | |
| XM_011542845.2:c.158G>T | XP_011541147.1:p.Cys53Phe | |
| XM_017017789.2:c.1466G>T | XP_016873278.1:p.Cys489Phe | |
| XM_017017790.2:c.1466G>T | XP_016873279.1:p.Cys489Phe | |
| XM_017017791.1:c.1466G>T | XP_016873280.1:p.Cys489Phe | |
| XM_017017792.2:c.1466G>T | XP_016873281.1:p.Cys489Phe | |
| XR_002957150.1:n.2199G>T | ||
| NM_001351834.2:c.1466G>T | NP_001338763.1:p.Cys489Phe | |
| NM_000051.4:c.1466G>T MANE Select | NP_000042.3:p.Cys489Phe |