Revel Score:
ENST00000434810
0.175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28694058C>A , CM000684.2:g.28694058C>A | GRCh38 |
| NC_000022.10:g.29090046C>A , CM000684.1:g.29090046C>A | GRCh37 |
| NC_000022.9:g.27420046C>A | NCBI36 |
| NG_008150.1:g.52777G>T | |
| NG_008150.2:g.52809G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*170G>T | ENSP00000518557.1:n.*170G>T | |
| ENST00000402731.6:c.1234G>T | ENSP00000384835.2:p.Glu412Ter | |
| ENST00000404276.6:c.1435G>T MANE Select | ENSP00000385747.1:p.Glu479Ter | |
| ENST00000425190.7:c.772G>T | ENSP00000390244.2:p.Glu258Ter | |
| ENST00000464581.6:c.775G>T | ENSP00000483777.2:p.Glu259Ter | |
| ENST00000648295.1:n.987G>T | ||
| ENST00000649563.1:c.772G>T | ENSP00000496928.1:p.Glu258Ter | |
| ENST00000650281.1:c.1435G>T | ENSP00000497000.1:p.Glu479Ter | |
| ENST00000328354.10:c.1435G>T | ENSP00000329178.6:p.Glu479Ter | |
| ENST00000348295.7:c.1348G>T | ENSP00000329012.5:p.Glu450Ter | |
| ENST00000382580.6:c.1564G>T | ENSP00000372023.2:p.Glu522Ter | |
| ENST00000402731.5:c.1348G>T | ENSP00000384835.1:p.Glu450Ter | |
| ENST00000403642.5:c.1162G>T | ENSP00000384919.1:p.Glu388Ter | |
| ENST00000404276.5:c.1435G>T | ENSP00000385747.1:p.Glu479Ter | |
| ENST00000405598.5:c.1435G>T | ENSP00000386087.1:p.Glu479Ter | |
| ENST00000416671.5:c.*925G>T | ENSP00000402225.1:n.*925G>T | |
| ENST00000417588.5:c.1344G>T | ENSP00000412901.1:n.1344G>T | |
| ENST00000433728.5:c.1373G>T | ENSP00000404400.1:n.1373G>T | |
| ENST00000434810.5:c.633G>T | ||
| ENST00000448511.5:c.1325G>T | ENSP00000404567.1:n.1325G>T | |
| ENST00000456369.5:c.264-4843G>T | ||
| NM_001005735.1:c.1564G>T | NP_001005735.1:p.Glu522Ter | |
| NM_001257387.1:c.772G>T | NP_001244316.1:p.Glu258Ter | |
| NM_007194.3:c.1435G>T | NP_009125.1:p.Glu479Ter | |
| NM_145862.2:c.1348G>T | NP_665861.1:p.Glu450Ter | |
| XM_006724114.2:c.955G>T | XP_006724177.1:p.Glu319Ter | |
| XM_006724116.2:c.892G>T | XP_006724179.2:p.Glu298Ter | |
| XM_011529839.1:c.1594G>T | XP_011528141.1:p.Glu532Ter | |
| XM_011529840.1:c.1507G>T | XP_011528142.1:p.Glu503Ter | |
| XM_011529841.1:c.1363G>T | XP_011528143.1:p.Glu455Ter | |
| XM_011529842.1:c.1264G>T | XP_011528144.1:p.Glu422Ter | |
| XM_011529843.1:c.1234G>T | XP_011528145.1:p.Glu412Ter | |
| XM_011529845.1:c.772G>T | XP_011528147.1:p.Glu258Ter | |
| XR_937805.1:n.1594G>T | ||
| NM_001349956.1:c.1234G>T | NP_001336885.1:p.Glu412Ter | |
| NM_007194.4:c.1435G>T MANE Select | NP_009125.1:p.Glu479Ter | |
| XM_006724114.3:c.988G>T | XP_006724177.2:p.Glu330Ter | |
| XM_011529839.2:c.1594G>T | XP_011528141.1:p.Glu532Ter | |
| XM_011529840.3:c.1507G>T | XP_011528142.1:p.Glu503Ter | |
| XM_011529842.2:c.1264G>T | XP_011528144.1:p.Glu422Ter | |
| XM_011529845.2:c.772G>T | XP_011528147.1:p.Glu258Ter | |
| XM_017028560.1:c.1558G>T | XP_016884049.1:p.Glu520Ter | |
| XM_017028561.2:c.772G>T | XP_016884050.1:p.Glu258Ter | |
| XM_024452148.1:c.1465G>T | XP_024307916.1:p.Glu489Ter | |
| XM_024452149.1:c.1378G>T | XP_024307917.1:p.Glu460Ter | |
| XR_937805.2:n.1605G>T | ||
| NM_001005735.2:c.1564G>T | NP_001005735.1:p.Glu522Ter | |
| NM_001257387.2:c.772G>T | NP_001244316.1:p.Glu258Ter | |
| NM_001349956.2:c.1234G>T | NP_001336885.1:p.Glu412Ter |