Revel Score:
ENST00000249760
0.938
ENST00000479013
0.938
ENST00000487418 (MANE Select)
0.938
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008832 (EAS)
Exomes Max Group AF
0.00008198 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40418190A>G , CM000677.2:g.40418190A>G | GRCh38 |
| NC_000015.9:g.40710389A>G , CM000677.1:g.40710389A>G | GRCh37 |
| NC_000015.8:g.38497681A>G | NCBI36 |
| NG_011986.1:g.17704A>G | |
| NG_011986.2:g.17706A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479013.7:c.1109A>G | ENSP00000417990.3:p.Tyr370Cys | |
| ENST00000487418.8:c.1199A>G MANE Select | ENSP00000418397.3:p.Tyr400Cys | |
| ENST00000650656.1:c.1118A>G | ENSP00000498731.1:p.Tyr373Cys | |
| ENST00000651168.1:c.1208A>G | ENSP00000499074.1:p.Tyr403Cys | |
| ENST00000466756.2:c.89+1828A>G | ||
| ENST00000473112.6:c.719+2708A>G | ||
| ENST00000479013.6:c.1118A>G | ENSP00000417990.2:p.Tyr373Cys | |
| ENST00000481262.6:c.650+1828A>G | ||
| ENST00000487418.6:c.1208A>G | ENSP00000418397.2:p.Tyr403Cys | |
| ENST00000491554.6:c.535+1828A>G | ENSP00000453146.1:n.535+1828A>G | |
| ENST00000497816.1:n.576A>G | ||
| ENST00000559575.5:c.102-990A>G | ||
| NM_001159508.1:c.1118A>G | NP_001152980.1:p.Tyr373Cys | |
| NM_002225.3:c.1208A>G | NP_002216.2:p.Tyr403Cys | |
| XM_005254350.2:c.1147+1828A>G | XP_005254407.1:n.1147+1828A>G | |
| XM_005254356.2:c.875+2708A>G | XP_005254413.1:n.875+2708A>G | |
| XM_006720491.2:c.1090+1828A>G | XP_006720554.1:n.1090+1828A>G | |
| XM_006720492.2:c.1147+1828A>G | XP_006720555.1:n.1147+1828A>G | |
| XM_006720493.2:c.1147+1828A>G | XP_006720556.1:n.1147+1828A>G | |
| XM_006720494.2:c.1148-990A>G | XP_006720557.1:n.1148-990A>G | |
| XM_006720495.2:c.969+2708A>G | XP_006720558.1:n.969+2708A>G | |
| XM_011521523.1:c.1147+1828A>G | XP_011519825.1:n.1147+1828A>G | |
| XR_243097.3:n.1114A>G | ||
| XR_243098.2:n.1053+1828A>G | ||
| XR_429453.2:n.1309A>G | ||
| NM_001159508.2:c.1109A>G | NP_001152980.2:p.Tyr370Cys | |
| NM_001354597.2:c.1151A>G | NP_001341526.1:p.Tyr384Cys | |
| NM_001354598.2:c.1138+1828A>G | NP_001341527.2:n.1138+1828A>G | |
| NM_001354599.2:c.1286A>G | NP_001341528.2:p.Tyr429Cys | |
| NM_001354600.2:c.1225+1828A>G | NP_001341529.2:n.1225+1828A>G | |
| NM_001354601.2:c.1138+1828A>G | NP_001341530.2:n.1138+1828A>G | |
| NM_002225.4:c.1199A>G | NP_002216.3:p.Tyr400Cys | |
| NR_148925.1:n.1548+1828A>G | ||
| XM_006720495.3:c.969+2708A>G | XP_006720558.1:n.969+2708A>G | |
| XM_017022149.1:c.1234+1828A>G | XP_016877638.1:n.1234+1828A>G | |
| XM_017022150.1:c.1234+1828A>G | XP_016877639.1:n.1234+1828A>G | |
| XM_017022153.1:c.1234+1828A>G | XP_016877642.1:n.1234+1828A>G | |
| XM_017022154.2:c.1238A>G | XP_016877643.1:p.Tyr413Cys | |
| XM_017022155.2:c.1235-990A>G | XP_016877644.1:n.1235-990A>G | |
| XM_017022157.1:c.1056+2708A>G | XP_016877646.1:n.1056+2708A>G | |
| XR_001751263.1:n.1558A>G | ||
| NM_001159508.3:c.1109A>G | NP_001152980.2:p.Tyr370Cys | |
| NM_001354597.3:c.1151A>G | NP_001341526.1:p.Tyr384Cys | |
| NM_001354598.3:c.1138+1828A>G | NP_001341527.2:n.1138+1828A>G | |
| NM_001354599.3:c.1286A>G | NP_001341528.2:p.Tyr429Cys | |
| NM_001354600.3:c.1225+1828A>G | NP_001341529.2:n.1225+1828A>G | |
| NM_001354601.3:c.1138+1828A>G | NP_001341530.2:n.1138+1828A>G | |
| NM_002225.5:c.1199A>G MANE Select | NP_002216.3:p.Tyr400Cys | |
| NR_148925.2:n.1550+1828A>G |