Revel Score:
ENST00000434810
0.096
ENST00000456369
0.096
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28703519A>C , CM000684.2:g.28703519A>C | GRCh38 |
| NC_000022.10:g.29099507A>C , CM000684.1:g.29099507A>C | GRCh37 |
| NC_000022.9:g.27429507A>C | NCBI36 |
| NG_008150.1:g.43316T>G | |
| NG_008150.2:g.43348T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.803T>G | ENSP00000396903.2:n.803T>G | |
| ENST00000711048.1:c.894T>G | ENSP00000518557.1:p.Tyr298Ter | |
| ENST00000402731.6:c.693T>G | ENSP00000384835.2:p.Tyr231Ter | |
| ENST00000404276.6:c.894T>G MANE Select | ENSP00000385747.1:p.Tyr298Ter | |
| ENST00000425190.7:c.231T>G | ENSP00000390244.2:p.Tyr77Ter | |
| ENST00000464581.6:c.234T>G | ENSP00000483777.2:p.Tyr78Ter | |
| ENST00000648295.1:n.446T>G | ||
| ENST00000649563.1:c.231T>G | ENSP00000496928.1:p.Tyr77Ter | |
| ENST00000650281.1:c.894T>G | ENSP00000497000.1:p.Tyr298Ter | |
| ENST00000328354.10:c.894T>G | ENSP00000329178.6:p.Tyr298Ter | |
| ENST00000348295.7:c.894T>G | ENSP00000329012.5:p.Tyr298Ter | |
| ENST00000382580.6:c.1023T>G | ENSP00000372023.2:p.Tyr341Ter | |
| ENST00000402731.5:c.894T>G | ENSP00000384835.1:p.Tyr298Ter | |
| ENST00000403642.5:c.621T>G | ENSP00000384919.1:p.Tyr207Ter | |
| ENST00000404276.5:c.894T>G | ENSP00000385747.1:p.Tyr298Ter | |
| ENST00000405598.5:c.894T>G | ENSP00000386087.1:p.Tyr298Ter | |
| ENST00000416671.5:c.*384T>G | ENSP00000402225.1:n.*384T>G | |
| ENST00000417588.5:c.803T>G | ENSP00000412901.1:n.803T>G | |
| ENST00000425190.6:c.231T>G | ENSP00000390244.1:p.Tyr77Ter | |
| ENST00000433028.6:c.*619T>G | ENSP00000403659.1:n.*619T>G | |
| ENST00000433728.5:c.847-3582T>G | ENSP00000404400.1:n.847-3582T>G | |
| ENST00000434810.5:c.125T>G | ||
| ENST00000439346.5:c.365T>G | ENSP00000396903.1:n.365T>G | |
| ENST00000447421.5:c.693T>G | ENSP00000397478.2:p.Tyr231Ter | |
| ENST00000448511.5:c.784T>G | ENSP00000404567.1:n.784T>G | |
| ENST00000456369.5:c.149T>G | ||
| ENST00000464581.5:c.234T>G | ENSP00000483777.1:p.Tyr78Ter | |
| ENST00000491919.5:n.451T>G | ||
| NM_001005735.1:c.1023T>G | NP_001005735.1:p.Tyr341Ter | |
| NM_001257387.1:c.231T>G | NP_001244316.1:p.Tyr77Ter | |
| NM_007194.3:c.894T>G | NP_009125.1:p.Tyr298Ter | |
| NM_145862.2:c.894T>G | NP_665861.1:p.Tyr298Ter | |
| XM_006724114.2:c.414T>G | XP_006724177.1:p.Tyr138Ter | |
| XM_006724116.2:c.351T>G | XP_006724179.2:p.Tyr117Ter | |
| XM_011529839.1:c.1053T>G | XP_011528141.1:p.Tyr351Ter | |
| XM_011529840.1:c.1053T>G | XP_011528142.1:p.Tyr351Ter | |
| XM_011529841.1:c.822T>G | XP_011528143.1:p.Tyr274Ter | |
| XM_011529842.1:c.723T>G | XP_011528144.1:p.Tyr241Ter | |
| XM_011529843.1:c.693T>G | XP_011528145.1:p.Tyr231Ter | |
| XM_011529844.1:c.1053T>G | XP_011528146.1:p.Tyr351Ter | |
| XM_011529845.1:c.231T>G | XP_011528147.1:p.Tyr77Ter | |
| XR_937805.1:n.1068-3582T>G | ||
| XR_937806.1:n.1063-3582T>G | ||
| XR_937807.1:n.1063-3582T>G | ||
| NM_001349956.1:c.693T>G | NP_001336885.1:p.Tyr231Ter | |
| NM_007194.4:c.894T>G MANE Select | NP_009125.1:p.Tyr298Ter | |
| XM_006724114.3:c.447T>G | XP_006724177.2:p.Tyr149Ter | |
| XM_011529839.2:c.1053T>G | XP_011528141.1:p.Tyr351Ter | |
| XM_011529840.3:c.1053T>G | XP_011528142.1:p.Tyr351Ter | |
| XM_011529842.2:c.723T>G | XP_011528144.1:p.Tyr241Ter | |
| XM_011529844.2:c.1053T>G | XP_011528146.1:p.Tyr351Ter | |
| XM_011529845.2:c.231T>G | XP_011528147.1:p.Tyr77Ter | |
| XM_017028560.1:c.1017T>G | XP_016884049.1:p.Tyr339Ter | |
| XM_017028561.2:c.231T>G | XP_016884050.1:p.Tyr77Ter | |
| XM_024452148.1:c.924T>G | XP_024307916.1:p.Tyr308Ter | |
| XM_024452149.1:c.924T>G | XP_024307917.1:p.Tyr308Ter | |
| XR_937805.2:n.1079-3582T>G | ||
| XR_937806.2:n.1079-3582T>G | ||
| XR_937807.2:n.1079-3582T>G | ||
| NM_001005735.2:c.1023T>G | NP_001005735.1:p.Tyr341Ter | |
| NM_001257387.2:c.231T>G | NP_001244316.1:p.Tyr77Ter | |
| NM_001349956.2:c.693T>G | NP_001336885.1:p.Tyr231Ter |