Revel Score:
ENST00000527805
0.091
ENST00000278616
0.091
ENST00000452508
0.091
ENST00000527891
0.016
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001637 (SAS)
Exomes Max Group AF
0.00001707 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108243954A>T , CM000673.2:g.108243954A>T | GRCh38 |
| NC_000011.9:g.108114681A>T , CM000673.1:g.108114681A>T | GRCh37 |
| NC_000011.8:g.107619891A>T | NCBI36 |
| NG_009830.1:g.26123A>T , LRG_135:g.26123A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.498A>T | ENSP00000388058.2:p.Glu166Asp | |
| ENST00000713593.1:c.497-21A>T | ENSP00000518889.1:n.497-21A>T | |
| ENST00000278616.9:c.498A>T | ENSP00000278616.4:p.Glu166Asp | |
| ENST00000682430.1:n.597A>T | ||
| ENST00000682516.1:n.632A>T | ||
| ENST00000682956.1:n.632A>T | ||
| ENST00000683100.1:n.2176A>T | ||
| ENST00000683174.1:n.648A>T | ||
| ENST00000684037.1:c.498A>T | ENSP00000508245.1:p.Glu166Asp | |
| ENST00000684061.1:n.632A>T | ||
| ENST00000684179.1:n.467A>T | ||
| ENST00000527805.6:c.498A>T | ENSP00000435747.2:p.Glu166Asp | |
| ENST00000675595.1:c.333A>T | ENSP00000502563.1:p.Lys111Asn | |
| ENST00000675843.1:c.498A>T MANE Select | ENSP00000501606.1:p.Glu166Asp | |
| ENST00000278616.8:c.498A>T | ENSP00000278616.4:p.Glu166Asp | |
| ENST00000452508.6:c.498A>T | ENSP00000388058.2:p.Glu166Asp | |
| ENST00000527805.5:c.498A>T | ENSP00000435747.1:p.Glu166Asp | |
| ENST00000527891.5:c.333A>T | ENSP00000433955.1:p.Lys111Asn | |
| NM_000051.3:c.498A>T , LRG_135t1:c.498A>T | NP_000042.3:p.Glu166Asp | |
| XM_005271561.3:c.498A>T | XP_005271618.2:p.Glu166Asp | |
| XM_005271562.3:c.498A>T | XP_005271619.2:p.Glu166Asp | |
| XM_006718843.2:c.498A>T | XP_006718906.1:p.Glu166Asp | |
| XM_011542840.1:c.498A>T | XP_011541142.1:p.Glu166Asp | |
| XM_011542841.1:c.498A>T | XP_011541143.1:p.Glu166Asp | |
| XM_011542842.1:c.333A>T | XP_011541144.1:p.Lys111Asn | |
| XM_011542843.1:c.498A>T | XP_011541145.1:p.Glu166Asp | |
| XM_011542844.1:c.-526-21A>T | XP_011541146.1:n.-526-21A>T | |
| XM_011542846.1:c.498A>T | XP_011541148.1:p.Glu166Asp | |
| NM_001351834.1:c.498A>T | NP_001338763.1:p.Glu166Asp | |
| XM_005271562.5:c.498A>T | XP_005271619.2:p.Glu166Asp | |
| XM_006718843.4:c.498A>T | XP_006718906.1:p.Glu166Asp | |
| XM_011542840.3:c.498A>T | XP_011541142.1:p.Glu166Asp | |
| XM_011542842.3:c.333A>T | XP_011541144.1:p.Lys111Asn | |
| XM_011542843.2:c.498A>T | XP_011541145.1:p.Glu166Asp | |
| XM_011542844.3:c.-526-21A>T | XP_011541146.1:n.-526-21A>T | |
| XM_017017789.2:c.498A>T | XP_016873278.1:p.Glu166Asp | |
| XM_017017790.2:c.498A>T | XP_016873279.1:p.Glu166Asp | |
| XM_017017791.1:c.498A>T | XP_016873280.1:p.Glu166Asp | |
| XM_017017792.2:c.498A>T | XP_016873281.1:p.Glu166Asp | |
| XR_002957150.1:n.1231A>T | ||
| NM_001351834.2:c.498A>T | NP_001338763.1:p.Glu166Asp | |
| NM_000051.4:c.498A>T MANE Select | NP_000042.3:p.Glu166Asp |