Revel Score:
ENST00000380059
0.710
ENST00000380056
0.710
ENST00000539553
0.710
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3230258G>C , CM000682.2:g.3230258G>C | GRCh38 |
| NC_000020.10:g.3210904G>C , CM000682.1:g.3210904G>C | GRCh37 |
| NC_000020.9:g.3158904G>C | NCBI36 |
| NG_017072.1:g.13984C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642402.1:c.1418C>G MANE Select | ENSP00000493503.1:p.Ser473Trp | |
| ENST00000644011.1:c.1349C>G | ENSP00000496214.1:p.Ser450Trp | |
| ENST00000644692.1:c.1289C>G | ENSP00000493824.1:p.Ser430Trp | |
| ENST00000647296.1:c.1304C>G | ENSP00000495050.1:p.Ser435Trp | |
| ENST00000380056.7:c.1466C>G | ENSP00000369396.3:p.Ser489Trp | |
| ENST00000380059.7:c.1547C>G | ENSP00000369399.3:p.Ser516Trp | |
| ENST00000470631.1:n.303C>G | ||
| ENST00000474451.5:c.1361C>G | ENSP00000476859.1:p.Ser454Trp | |
| ENST00000539553.6:c.1418C>G | ENSP00000441370.1:p.Ser473Trp | |
| NM_001174089.1:c.1418C>G | NP_001167560.1:p.Ser473Trp | |
| NM_001174090.1:c.1547C>G | NP_001167561.1:p.Ser516Trp | |
| NM_032034.3:c.1466C>G | NP_114423.1:p.Ser489Trp | |
| XM_005260856.3:c.1787C>G | XP_005260913.1:p.Ser596Trp | |
| XM_005260857.1:c.1361C>G | XP_005260914.1:p.Ser454Trp | |
| XM_011529383.1:c.1385C>G | XP_011527685.1:p.Ser462Trp | |
| XM_011529384.1:c.1361C>G | XP_011527686.1:p.Ser454Trp | |
| XM_011529385.1:c.1361C>G | XP_011527687.1:p.Ser454Trp | |
| XM_011529386.1:c.1901C>G | XP_011527688.1:p.Ser634Trp | |
| XR_937167.1:n.1586C>G | ||
| NM_001363745.1:c.1304C>G | NP_001350674.1:p.Ser435Trp | |
| NR_135000.1:n.1586C>G | ||
| XM_005260856.5:c.1787C>G | XP_005260913.1:p.Ser596Trp | |
| XM_011529383.3:c.1385C>G | XP_011527685.1:p.Ser462Trp | |
| XM_017028093.1:c.1901C>G | XP_016883582.1:p.Ser634Trp | |
| XM_017028094.1:c.1361C>G | XP_016883583.1:p.Ser454Trp | |
| XM_017028096.1:c.1361C>G | XP_016883585.1:p.Ser454Trp | |
| XR_001754419.1:n.2011C>G | ||
| XR_001754420.2:n.2011C>G | ||
| NM_001174089.2:c.1418C>G MANE Select | NP_001167560.1:p.Ser473Trp | |
| NM_001363745.2:c.1304C>G | NP_001350674.1:p.Ser435Trp | |
| NM_001174090.2:c.1547C>G | NP_001167561.1:p.Ser516Trp | |
| NM_032034.4:c.1466C>G | NP_114423.1:p.Ser489Trp | |
| NM_001400277.1:c.1361C>G | NP_001387206.1:p.Ser454Trp | |
| NM_001400278.1:c.1361C>G | NP_001387207.1:p.Ser454Trp | |
| NM_001400279.1:c.1361C>G | NP_001387208.1:p.Ser454Trp | |
| NM_001400280.1:c.1433C>G | NP_001387209.1:p.Ser478Trp | |
| NR_174470.1:n.1991C>G | ||
| NR_174471.1:n.1976C>G |