Revel Score:
ENST00000278616
0.118
ENST00000452508
0.118
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017798 (AFR)
Genomes Max Group AF
0.00013007 (AFR)
Exomes Max Group AF
0.00016524 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108293359A>C , CM000673.2:g.108293359A>C | GRCh38 |
| NC_000011.9:g.108164086A>C , CM000673.1:g.108164086A>C | GRCh37 |
| NC_000011.8:g.107669296A>C | NCBI36 |
| NG_009830.1:g.75528A>C , LRG_135:g.75528A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.4658A>C | ENSP00000388058.2:p.Glu1553Ala | |
| ENST00000713593.1:c.*4129A>C | ENSP00000518889.1:n.*4129A>C | |
| ENST00000278616.9:c.4658A>C | ENSP00000278616.4:p.Glu1553Ala | |
| ENST00000683174.1:n.4808A>C | ||
| ENST00000683524.1:n.15A>C | ||
| ENST00000527805.6:c.4611+566A>C | ENSP00000435747.2:n.4611+566A>C | |
| ENST00000675595.1:c.4493A>C | ENSP00000502563.1:p.Glu1498Ala | |
| ENST00000675843.1:c.4658A>C MANE Select | ENSP00000501606.1:p.Glu1553Ala | |
| ENST00000278616.8:c.4658A>C | ENSP00000278616.4:p.Glu1553Ala | |
| ENST00000452508.6:c.4658A>C | ENSP00000388058.2:p.Glu1553Ala | |
| ENST00000524792.5:n.873A>C | ||
| ENST00000531525.2:c.444-1568A>C | ENSP00000434327.2:n.444-1568A>C | |
| NM_000051.3:c.4658A>C , LRG_135t1:c.4658A>C | NP_000042.3:p.Glu1553Ala | |
| XM_005271561.3:c.4658A>C | XP_005271618.2:p.Glu1553Ala | |
| XM_005271562.3:c.4658A>C | XP_005271619.2:p.Glu1553Ala | |
| XM_006718843.2:c.4658A>C | XP_006718906.1:p.Glu1553Ala | |
| XM_006718845.1:c.614A>C | XP_006718908.1:p.Glu205Ala | |
| XM_011542840.1:c.4658A>C | XP_011541142.1:p.Glu1553Ala | |
| XM_011542841.1:c.4658A>C | XP_011541143.1:p.Glu1553Ala | |
| XM_011542842.1:c.4493A>C | XP_011541144.1:p.Glu1498Ala | |
| XM_011542843.1:c.4658A>C | XP_011541145.1:p.Glu1553Ala | |
| XM_011542844.1:c.3614A>C | XP_011541146.1:p.Glu1205Ala | |
| XM_011542845.1:c.3350A>C | XP_011541147.1:p.Glu1117Ala | |
| XM_011542846.1:c.4658A>C | XP_011541148.1:p.Glu1553Ala | |
| NM_001351834.1:c.4658A>C | NP_001338763.1:p.Glu1553Ala | |
| XM_005271562.5:c.4658A>C | XP_005271619.2:p.Glu1553Ala | |
| XM_006718843.4:c.4658A>C | XP_006718906.1:p.Glu1553Ala | |
| XM_006718845.2:c.614A>C | XP_006718908.1:p.Glu205Ala | |
| XM_011542840.3:c.4658A>C | XP_011541142.1:p.Glu1553Ala | |
| XM_011542842.3:c.4493A>C | XP_011541144.1:p.Glu1498Ala | |
| XM_011542843.2:c.4658A>C | XP_011541145.1:p.Glu1553Ala | |
| XM_011542844.3:c.3614A>C | XP_011541146.1:p.Glu1205Ala | |
| XM_011542845.2:c.3350A>C | XP_011541147.1:p.Glu1117Ala | |
| XM_017017789.2:c.4658A>C | XP_016873278.1:p.Glu1553Ala | |
| XM_017017790.2:c.4658A>C | XP_016873279.1:p.Glu1553Ala | |
| XM_017017791.1:c.4658A>C | XP_016873280.1:p.Glu1553Ala | |
| XM_017017792.2:c.4658A>C | XP_016873281.1:p.Glu1553Ala | |
| XR_002957150.1:n.5391A>C | ||
| NM_001351834.2:c.4658A>C | NP_001338763.1:p.Glu1553Ala | |
| NM_000051.4:c.4658A>C MANE Select | NP_000042.3:p.Glu1553Ala |