Revel Score:
ENST00000434810
0.059
ENST00000456369
0.059
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28689174C>T , CM000684.2:g.28689174C>T | GRCh38 |
| NC_000022.10:g.29085162C>T , CM000684.1:g.29085162C>T | GRCh37 |
| NC_000022.9:g.27415162C>T | NCBI36 |
| NG_008150.1:g.57661G>A | |
| NG_008150.2:g.57693G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*238G>A | ENSP00000518557.1:n.*238G>A | |
| ENST00000402731.6:c.1302G>A | ENSP00000384835.2:p.Glu434= | |
| ENST00000404276.6:c.1503G>A MANE Select | ENSP00000385747.1:p.Glu501= | |
| ENST00000425190.7:c.840G>A | ENSP00000390244.2:p.Glu280= | |
| ENST00000464581.6:c.843G>A | ENSP00000483777.2:p.Glu281= | |
| ENST00000648295.1:n.1055G>A | ||
| ENST00000649563.1:c.840G>A | ENSP00000496928.1:p.Glu280= | |
| ENST00000650281.1:c.1503G>A | ENSP00000497000.1:p.Glu501= | |
| ENST00000328354.10:c.1503G>A | ENSP00000329178.6:p.Glu501= | |
| ENST00000348295.7:c.1416G>A | ENSP00000329012.5:p.Glu472= | |
| ENST00000382580.6:c.1632G>A | ENSP00000372023.2:p.Glu544= | |
| ENST00000402731.5:c.1416G>A | ENSP00000384835.1:p.Glu472= | |
| ENST00000403642.5:c.1230G>A | ENSP00000384919.1:p.Glu410= | |
| ENST00000404276.5:c.1503G>A | ENSP00000385747.1:p.Glu501= | |
| ENST00000405598.5:c.1503G>A | ENSP00000386087.1:p.Glu501= | |
| ENST00000416671.5:c.*993G>A | ENSP00000402225.1:n.*993G>A | |
| ENST00000417588.5:c.1412G>A | ENSP00000412901.1:n.1412G>A | |
| ENST00000433728.5:c.1441G>A | ENSP00000404400.1:n.1441G>A | |
| ENST00000434810.5:c.701G>A | ||
| ENST00000448511.5:c.1393G>A | ENSP00000404567.1:n.1393G>A | |
| ENST00000456369.5:c.305G>A | ||
| ENST00000472807.1:n.237G>A | ||
| NM_001005735.1:c.1632G>A | NP_001005735.1:p.Glu544= | |
| NM_001257387.1:c.840G>A | NP_001244316.1:p.Glu280= | |
| NM_007194.3:c.1503G>A | NP_009125.1:p.Glu501= | |
| NM_145862.2:c.1416G>A | NP_665861.1:p.Glu472= | |
| XM_006724114.2:c.1023G>A | XP_006724177.1:p.Glu341= | |
| XM_006724116.2:c.960G>A | XP_006724179.2:p.Glu320= | |
| XM_011529839.1:c.1662G>A | XP_011528141.1:p.Glu554= | |
| XM_011529840.1:c.1575G>A | XP_011528142.1:p.Glu525= | |
| XM_011529841.1:c.1431G>A | XP_011528143.1:p.Glu477= | |
| XM_011529842.1:c.1332G>A | XP_011528144.1:p.Glu444= | |
| XM_011529843.1:c.1302G>A | XP_011528145.1:p.Glu434= | |
| XM_011529845.1:c.840G>A | XP_011528147.1:p.Glu280= | |
| XR_937805.1:n.1662G>A | ||
| NM_001349956.1:c.1302G>A | NP_001336885.1:p.Glu434= | |
| NM_007194.4:c.1503G>A MANE Select | NP_009125.1:p.Glu501= | |
| XM_006724114.3:c.1056G>A | XP_006724177.2:p.Glu352= | |
| XM_011529839.2:c.1662G>A | XP_011528141.1:p.Glu554= | |
| XM_011529840.3:c.1575G>A | XP_011528142.1:p.Glu525= | |
| XM_011529842.2:c.1332G>A | XP_011528144.1:p.Glu444= | |
| XM_011529845.2:c.840G>A | XP_011528147.1:p.Glu280= | |
| XM_017028560.1:c.1626G>A | XP_016884049.1:p.Glu542= | |
| XM_017028561.2:c.840G>A | XP_016884050.1:p.Glu280= | |
| XM_024452148.1:c.1533G>A | XP_024307916.1:p.Glu511= | |
| XM_024452149.1:c.1446G>A | XP_024307917.1:p.Glu482= | |
| XR_937805.2:n.1673G>A | ||
| NM_001005735.2:c.1632G>A | NP_001005735.1:p.Glu544= | |
| NM_001257387.2:c.840G>A | NP_001244316.1:p.Glu280= | |
| NM_001349956.2:c.1302G>A | NP_001336885.1:p.Glu434= |