Revel Score:
ENST00000434810
0.320
ENST00000456369
0.320
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28703561G>T , CM000684.2:g.28703561G>T | GRCh38 |
| NC_000022.10:g.29099549G>T , CM000684.1:g.29099549G>T | GRCh37 |
| NC_000022.9:g.27429549G>T | NCBI36 |
| NG_008150.1:g.43274C>A | |
| NG_008150.2:g.43306C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.761C>A | ENSP00000396903.2:n.761C>A | |
| ENST00000711048.1:c.852C>A | ENSP00000518557.1:p.Cys284Ter | |
| ENST00000402731.6:c.651C>A | ENSP00000384835.2:p.Cys217Ter | |
| ENST00000404276.6:c.852C>A MANE Select | ENSP00000385747.1:p.Cys284Ter | |
| ENST00000425190.7:c.189C>A | ENSP00000390244.2:p.Cys63Ter | |
| ENST00000464581.6:c.192C>A | ENSP00000483777.2:p.Cys64Ter | |
| ENST00000648295.1:n.404C>A | ||
| ENST00000649563.1:c.189C>A | ENSP00000496928.1:p.Cys63Ter | |
| ENST00000650281.1:c.852C>A | ENSP00000497000.1:p.Cys284Ter | |
| ENST00000328354.10:c.852C>A | ENSP00000329178.6:p.Cys284Ter | |
| ENST00000348295.7:c.852C>A | ENSP00000329012.5:p.Cys284Ter | |
| ENST00000382580.6:c.981C>A | ENSP00000372023.2:p.Cys327Ter | |
| ENST00000402731.5:c.852C>A | ENSP00000384835.1:p.Cys284Ter | |
| ENST00000403642.5:c.579C>A | ENSP00000384919.1:p.Cys193Ter | |
| ENST00000404276.5:c.852C>A | ENSP00000385747.1:p.Cys284Ter | |
| ENST00000405598.5:c.852C>A | ENSP00000386087.1:p.Cys284Ter | |
| ENST00000416671.5:c.*342C>A | ENSP00000402225.1:n.*342C>A | |
| ENST00000417588.5:c.761C>A | ENSP00000412901.1:n.761C>A | |
| ENST00000425190.6:c.189C>A | ENSP00000390244.1:p.Cys63Ter | |
| ENST00000433028.6:c.*577C>A | ENSP00000403659.1:n.*577C>A | |
| ENST00000433728.5:c.847-3624C>A | ENSP00000404400.1:n.847-3624C>A | |
| ENST00000434810.5:c.83C>A | ||
| ENST00000439346.5:c.323C>A | ENSP00000396903.1:n.323C>A | |
| ENST00000447421.5:c.651C>A | ENSP00000397478.2:p.Cys217Ter | |
| ENST00000448511.5:c.742C>A | ENSP00000404567.1:n.742C>A | |
| ENST00000456369.5:c.107C>A | ||
| ENST00000464581.5:c.192C>A | ENSP00000483777.1:p.Cys64Ter | |
| ENST00000491919.5:n.409C>A | ||
| NM_001005735.1:c.981C>A | NP_001005735.1:p.Cys327Ter | |
| NM_001257387.1:c.189C>A | NP_001244316.1:p.Cys63Ter | |
| NM_007194.3:c.852C>A | NP_009125.1:p.Cys284Ter | |
| NM_145862.2:c.852C>A | NP_665861.1:p.Cys284Ter | |
| XM_006724114.2:c.372C>A | XP_006724177.1:p.Cys124Ter | |
| XM_006724116.2:c.309C>A | XP_006724179.2:p.Cys103Ter | |
| XM_011529839.1:c.1011C>A | XP_011528141.1:p.Cys337Ter | |
| XM_011529840.1:c.1011C>A | XP_011528142.1:p.Cys337Ter | |
| XM_011529841.1:c.780C>A | XP_011528143.1:p.Cys260Ter | |
| XM_011529842.1:c.681C>A | XP_011528144.1:p.Cys227Ter | |
| XM_011529843.1:c.651C>A | XP_011528145.1:p.Cys217Ter | |
| XM_011529844.1:c.1011C>A | XP_011528146.1:p.Cys337Ter | |
| XM_011529845.1:c.189C>A | XP_011528147.1:p.Cys63Ter | |
| XR_937805.1:n.1068-3624C>A | ||
| XR_937806.1:n.1063-3624C>A | ||
| XR_937807.1:n.1063-3624C>A | ||
| NM_001349956.1:c.651C>A | NP_001336885.1:p.Cys217Ter | |
| NM_007194.4:c.852C>A MANE Select | NP_009125.1:p.Cys284Ter | |
| XM_006724114.3:c.405C>A | XP_006724177.2:p.Cys135Ter | |
| XM_011529839.2:c.1011C>A | XP_011528141.1:p.Cys337Ter | |
| XM_011529840.3:c.1011C>A | XP_011528142.1:p.Cys337Ter | |
| XM_011529842.2:c.681C>A | XP_011528144.1:p.Cys227Ter | |
| XM_011529844.2:c.1011C>A | XP_011528146.1:p.Cys337Ter | |
| XM_011529845.2:c.189C>A | XP_011528147.1:p.Cys63Ter | |
| XM_017028560.1:c.975C>A | XP_016884049.1:p.Cys325Ter | |
| XM_017028561.2:c.189C>A | XP_016884050.1:p.Cys63Ter | |
| XM_024452148.1:c.882C>A | XP_024307916.1:p.Cys294Ter | |
| XM_024452149.1:c.882C>A | XP_024307917.1:p.Cys294Ter | |
| XR_937805.2:n.1079-3624C>A | ||
| XR_937806.2:n.1079-3624C>A | ||
| XR_937807.2:n.1079-3624C>A | ||
| NM_001005735.2:c.981C>A | NP_001005735.1:p.Cys327Ter | |
| NM_001257387.2:c.189C>A | NP_001244316.1:p.Cys63Ter | |
| NM_001349956.2:c.651C>A | NP_001336885.1:p.Cys217Ter |