Revel Score:
ENST00000490502
0.232
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00189319 (AMR)
Genomes Max Group AF
0.00026008 (AMR)
Exomes Max Group AF
0.00237561 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43899643C>T , CM000663.2:g.43899643C>T | GRCh38 |
| NC_000001.10:g.44365315C>T , CM000663.1:g.44365315C>T | GRCh37 |
| NC_000001.9:g.44137902C>T | NCBI36 |
| NG_028196.1:g.197098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262915.8:c.867C>T | ENSP00000262915.3:p.Tyr289= | |
| ENST00000332628.11:c.446C>T | ||
| ENST00000347631.8:c.660C>T MANE Select | ENSP00000317192.6:p.Tyr220= | |
| ENST00000351035.8:c.822C>T | ENSP00000316999.6:p.Tyr274= | |
| ENST00000353126.8:c.660C>T | ENSP00000330463.3:p.Tyr220= | |
| ENST00000361392.9:c.705C>T | ENSP00000355341.5:p.Tyr235= | |
| ENST00000361400.9:c.612C>T | ENSP00000354748.4:p.Tyr204= | |
| ENST00000361746.9:c.753C>T | ENSP00000354657.5:p.Tyr251= | |
| ENST00000361812.9:c.442+5166C>T | ENSP00000355201.4:n.442+5166C>T | |
| ENST00000372366.6:c.580+354C>T | ENSP00000361441.1:n.580+354C>T | |
| ENST00000372368.7:c.822C>T | ENSP00000361443.3:p.Tyr274= | |
| ENST00000372372.7:c.774C>T | ENSP00000361447.2:p.Tyr258= | |
| ENST00000372374.7:c.567C>T | ENSP00000361449.2:p.Tyr189= | |
| ENST00000461375.2:n.537C>T | ||
| ENST00000469715.6:c.508C>T | ENSP00000431700.2:n.508C>T | |
| ENST00000489897.6:c.*365+380C>T | ENSP00000437206.1:n.*365+380C>T | |
| ENST00000490541.6:c.569C>T | ENSP00000435018.2:n.569C>T | |
| ENST00000531993.6:c.519C>T | ENSP00000432682.2:p.Tyr173= | |
| ENST00000533933.6:c.603C>T | ENSP00000432965.2:p.Tyr201= | |
| ENST00000533997.6:c.*485C>T | ENSP00000432071.1:n.*485C>T | |
| ENST00000642194.1:c.442+5166C>T | ENSP00000493708.1:n.442+5166C>T | |
| ENST00000642331.1:c.705C>T | ENSP00000493823.1:p.Tyr235= | |
| ENST00000642504.1:c.*485C>T | ENSP00000494857.1:n.*485C>T | |
| ENST00000642780.1:c.484C>T | ||
| ENST00000642934.1:c.612C>T | ENSP00000494146.1:p.Tyr204= | |
| ENST00000642949.1:c.*122C>T | ENSP00000495709.1:n.*122C>T | |
| ENST00000643252.1:c.660C>T | ENSP00000495333.1:p.Tyr220= | |
| ENST00000643283.1:c.*122C>T | ENSP00000494746.1:n.*122C>T | |
| ENST00000643597.1:c.*104C>T | ENSP00000495977.1:n.*104C>T | |
| ENST00000643813.1:c.705C>T | ENSP00000496646.1:n.705C>T | |
| ENST00000643989.1:c.142C>T | ||
| ENST00000644016.1:n.630C>T | ||
| ENST00000644195.1:c.660C>T | ENSP00000494201.1:p.Tyr220= | |
| ENST00000644287.1:c.554C>T | ||
| ENST00000644378.1:n.504C>T | ||
| ENST00000644645.1:c.446C>T | ENSP00000495647.1:n.446C>T | |
| ENST00000644922.1:c.627C>T | ENSP00000496289.1:p.Tyr209= | |
| ENST00000645012.1:n.308C>T | ||
| ENST00000645034.1:c.660C>T | ENSP00000496350.1:p.Tyr220= | |
| ENST00000645057.1:c.*1982C>T | ENSP00000494063.1:n.*1982C>T | |
| ENST00000645117.1:c.519+354C>T | ||
| ENST00000645142.1:c.*122C>T | ENSP00000496550.1:n.*122C>T | |
| ENST00000645161.1:c.356C>T | ||
| ENST00000645165.1:c.*468C>T | ENSP00000493660.1:n.*468C>T | |
| ENST00000645394.1:c.*122C>T | ENSP00000495299.1:n.*122C>T | |
| ENST00000645640.1:c.*468C>T | ENSP00000494852.1:n.*468C>T | |
| ENST00000645644.1:n.622C>T | ||
| ENST00000645705.1:c.*124C>T | ENSP00000496492.1:n.*124C>T | |
| ENST00000646027.1:c.612C>T | ENSP00000494396.1:p.Tyr204= | |
| ENST00000646032.1:c.400C>T | ||
| ENST00000646069.1:c.567C>T | ENSP00000496585.1:p.Tyr189= | |
| ENST00000646686.1:c.612C>T | ENSP00000495683.1:p.Tyr204= | |
| ENST00000646971.1:c.660C>T | ENSP00000495887.1:p.Tyr220= | |
| ENST00000647128.1:c.*111-30489C>T | ENSP00000494374.1:n.*111-30489C>T | |
| ENST00000647134.1:c.*485C>T | ENSP00000495797.1:n.*485C>T | |
| ENST00000647148.1:c.660C>T | ENSP00000495939.1:p.Tyr220= | |
| ENST00000647237.1:c.822C>T | ENSP00000495624.1:p.Tyr274= | |
| ENST00000647299.1:n.585C>T | ||
| ENST00000647482.1:c.*254C>T | ENSP00000495567.1:n.*254C>T | |
| ENST00000647503.1:c.439+380C>T | ||
| ENST00000262915.7:c.867C>T | ENSP00000262915.3:p.Tyr289= | |
| ENST00000330208.6:c.255-30489C>T | ENSP00000333494.3:n.255-30489C>T | |
| ENST00000332628.10:c.567C>T | ENSP00000329755.6:p.Tyr189= | |
| ENST00000335430.10:c.*22+354C>T | ENSP00000335633.7:n.*22+354C>T | |
| ENST00000347631.6:c.705C>T | ENSP00000317192.4:p.Tyr235= | |
| ENST00000351035.7:c.774C>T | ENSP00000316999.5:p.Tyr258= | |
| ENST00000353126.7:c.660C>T | ENSP00000330463.3:p.Tyr220= | |
| ENST00000361392.8:c.660C>T | ENSP00000355341.4:p.Tyr220= | |
| ENST00000361400.8:c.612C>T | ENSP00000354748.4:p.Tyr204= | |
| ENST00000361746.8:c.867C>T | ENSP00000354657.4:p.Tyr289= | |
| ENST00000361812.8:c.442+5166C>T | ENSP00000355201.4:n.442+5166C>T | |
| ENST00000372362.6:c.397+5166C>T | ENSP00000361437.2:n.397+5166C>T | |
| ENST00000372365.5:c.583+354C>T | ENSP00000361440.1:n.583+354C>T | |
| ENST00000372366.5:c.580+354C>T | ENSP00000361441.1:n.580+354C>T | |
| ENST00000372367.5:c.554+380C>T | ENSP00000361442.1:n.554+380C>T | |
| ENST00000372368.6:c.822C>T | ENSP00000361443.2:p.Tyr274= | |
| ENST00000372369.5:c.660C>T | ENSP00000361444.1:p.Tyr220= | |
| ENST00000372372.6:c.774C>T | ENSP00000361447.2:p.Tyr258= | |
| ENST00000372374.6:c.567C>T | ENSP00000361449.2:p.Tyr189= | |
| ENST00000461375.1:n.536C>T | ||
| ENST00000469715.5:c.692C>T | ENSP00000431700.1:n.692C>T | |
| ENST00000489897.5:c.*365+380C>T | ENSP00000437206.1:n.*365+380C>T | |
| ENST00000490502.1:c.56C>T | ||
| ENST00000490541.5:c.508C>T | ENSP00000435018.1:n.508C>T | |
| ENST00000528371.5:c.509+380C>T | ENSP00000434876.1:n.509+380C>T | |
| ENST00000530154.5:c.*717C>T | ENSP00000434686.1:n.*717C>T | |
| ENST00000530581.5:c.509+380C>T | ENSP00000437293.1:n.509+380C>T | |
| ENST00000531451.5:c.349+5166C>T | ENSP00000435603.1:n.349+5166C>T | |
| ENST00000531816.1:c.255-30489C>T | ENSP00000434378.1:n.255-30489C>T | |
| ENST00000531993.5:c.612C>T | ENSP00000432682.1:p.Tyr204= | |
| ENST00000533212.5:c.397+5166C>T | ENSP00000435621.1:n.397+5166C>T | |
| ENST00000533933.5:c.660C>T | ENSP00000432965.1:p.Tyr220= | |
| ENST00000533997.5:c.833C>T | ENSP00000432071.1:n.833C>T | |
| ENST00000545417.5:c.442+5166C>T | ENSP00000439634.1:n.442+5166C>T | |
| NM_001270459.1:c.660C>T | NP_001257388.1:p.Tyr220= | |
| NM_001270460.1:c.567C>T | NP_001257389.1:p.Tyr189= | |
| NM_001270461.1:c.612C>T | NP_001257390.1:p.Tyr204= | |
| NM_001270462.1:c.519C>T | NP_001257391.1:p.Tyr173= | |
| NM_001270463.1:c.554+380C>T | NP_001257392.1:n.554+380C>T | |
| NM_001270464.1:c.509+380C>T | NP_001257393.1:n.509+380C>T | |
| NM_001270465.1:c.*22+354C>T | NP_001257394.1:n.*22+354C>T | |
| NM_001270466.1:c.255-30489C>T | NP_001257395.1:n.255-30489C>T | |
| NM_006279.3:c.660C>T | NP_006270.1:p.Tyr220= | |
| NM_174963.3:c.867C>T | NP_777623.2:p.Tyr289= | |
| NM_174964.2:c.705C>T | NP_777624.1:p.Tyr235= | |
| NM_174965.2:c.442+5166C>T | NP_777625.1:n.442+5166C>T | |
| NM_174966.2:c.660C>T | NP_777626.1:p.Tyr220= | |
| NM_174967.2:c.397+5166C>T | NP_777627.1:n.397+5166C>T | |
| NM_174968.3:c.822C>T | NP_777628.2:p.Tyr274= | |
| NM_174969.2:c.612C>T | NP_777629.1:p.Tyr204= | |
| NM_174970.2:c.349+5166C>T | NP_777630.1:n.349+5166C>T | |
| NM_174971.3:c.774C>T | NP_777631.2:p.Tyr258= | |
| NR_073016.1:n.883C>T | ||
| NR_073017.1:n.760C>T | ||
| NR_073018.1:n.1024C>T | ||
| NR_073019.1:n.699C>T | ||
| NR_073020.1:n.700+380C>T | ||
| NR_073021.1:n.922+380C>T | ||
| NR_073023.1:n.588+5166C>T | ||
| XM_006710825.2:c.660C>T | XP_006710888.1:p.Tyr220= | |
| XM_006710826.2:c.657C>T | XP_006710889.1:p.Tyr219= | |
| XM_006710827.2:c.612C>T | XP_006710890.1:p.Tyr204= | |
| XM_006710828.2:c.381C>T | XP_006710891.1:p.Tyr127= | |
| XM_006710829.2:c.339C>T | XP_006710892.1:p.Tyr113= | |
| XM_011541972.1:c.867C>T | XP_011540274.1:p.Tyr289= | |
| XM_011541973.1:c.867C>T | XP_011540275.1:p.Tyr289= | |
| XM_011541974.1:c.822C>T | XP_011540276.1:p.Tyr274= | |
| XM_011541975.1:c.819C>T | XP_011540277.1:p.Tyr273= | |
| XM_011541976.1:c.774C>T | XP_011540278.1:p.Tyr258= | |
| XM_011541977.1:c.705C>T | XP_011540279.1:p.Tyr235= | |
| XM_011541978.1:c.699C>T | XP_011540280.1:p.Tyr233= | |
| XM_011541979.1:c.537C>T | XP_011540281.1:p.Tyr179= | |
| XM_011541980.1:c.495C>T | XP_011540282.1:p.Tyr165= | |
| XM_011541981.1:c.867C>T | XP_011540283.1:p.Tyr289= | |
| XM_011541982.1:c.381C>T | XP_011540284.1:p.Tyr127= | |
| XM_011541983.1:c.378C>T | XP_011540285.1:p.Tyr126= | |
| XM_011541984.1:c.867C>T | XP_011540286.1:p.Tyr289= | |
| XM_011541985.1:c.867C>T | XP_011540287.1:p.Tyr289= | |
| XM_011541986.1:c.867C>T | XP_011540288.1:p.Tyr289= | |
| XM_011541987.1:c.339C>T | XP_011540289.1:p.Tyr113= | |
| XM_011541988.1:c.339C>T | XP_011540290.1:p.Tyr113= | |
| XM_011541989.1:c.*22+354C>T | XP_011540291.1:n.*22+354C>T | |
| XM_011541990.1:c.21C>T | XP_011540292.1:p.Tyr7= | |
| XR_946742.1:n.1058C>T | ||
| XR_946743.1:n.1058C>T | ||
| XR_946744.1:n.1058C>T | ||
| XR_946745.1:n.1093C>T | ||
| NM_001270461.2:c.612C>T | NP_001257390.1:p.Tyr204= | |
| NM_001270462.2:c.519C>T | NP_001257391.1:p.Tyr173= | |
| NM_001270463.2:c.554+380C>T | NP_001257392.1:n.554+380C>T | |
| NM_001270464.2:c.509+380C>T | NP_001257393.1:n.509+380C>T | |
| NM_001270465.2:c.*22+354C>T | NP_001257394.1:n.*22+354C>T | |
| NM_001270466.2:c.255-30489C>T | NP_001257395.1:n.255-30489C>T | |
| NM_001350619.1:c.705C>T | NP_001337548.1:p.Tyr235= | |
| NM_001350620.1:c.660C>T | NP_001337549.1:p.Tyr220= | |
| NM_001350621.1:c.381C>T | NP_001337550.1:p.Tyr127= | |
| NM_001363573.1:c.822C>T | NP_001350502.1:p.Tyr274= | |
| NM_006279.4:c.660C>T | NP_006270.1:p.Tyr220= | |
| NM_174963.4:c.867C>T | NP_777623.2:p.Tyr289= | |
| NM_174964.3:c.705C>T | NP_777624.1:p.Tyr235= | |
| NM_174965.3:c.442+5166C>T | NP_777625.1:n.442+5166C>T | |
| NM_174966.3:c.660C>T | NP_777626.1:p.Tyr220= | |
| NM_174967.3:c.397+5166C>T | NP_777627.1:n.397+5166C>T | |
| NM_174968.4:c.822C>T | NP_777628.2:p.Tyr274= | |
| NM_174969.3:c.612C>T | NP_777629.1:p.Tyr204= | |
| NM_174970.3:c.349+5166C>T | NP_777630.1:n.349+5166C>T | |
| NM_174971.4:c.774C>T | NP_777631.2:p.Tyr258= | |
| NR_073016.2:n.919C>T | ||
| NR_073017.2:n.796C>T | ||
| NR_073018.2:n.1060C>T | ||
| NR_073019.2:n.735C>T | ||
| NR_073020.2:n.736+380C>T | ||
| NR_073021.2:n.958+380C>T | ||
| NR_073023.2:n.624+5166C>T | ||
| NR_146867.1:n.919C>T | ||
| XM_006710827.4:c.612C>T | XP_006710890.1:p.Tyr204= | |
| XM_011541973.2:c.867C>T | XP_011540275.1:p.Tyr289= | |
| XM_011541974.2:c.822C>T | XP_011540276.1:p.Tyr274= | |
| XM_011541976.2:c.774C>T | XP_011540278.1:p.Tyr258= | |
| XM_011541980.3:c.495C>T | XP_011540282.1:p.Tyr165= | |
| XM_011541981.2:c.867C>T | XP_011540283.1:p.Tyr289= | |
| XM_011541983.2:c.378C>T | XP_011540285.1:p.Tyr126= | |
| XM_011541984.2:c.867C>T | XP_011540286.1:p.Tyr289= | |
| XM_011541985.2:c.867C>T | XP_011540287.1:p.Tyr289= | |
| XM_011541986.3:c.867C>T | XP_011540288.1:p.Tyr289= | |
| XM_011541987.2:c.339C>T | XP_011540289.1:p.Tyr113= | |
| XM_011541988.2:c.339C>T | XP_011540290.1:p.Tyr113= | |
| XM_017002109.2:c.867C>T | XP_016857598.1:p.Tyr289= | |
| XM_017002110.1:c.867C>T | XP_016857599.1:p.Tyr289= | |
| XM_017002113.1:c.660C>T | XP_016857602.1:p.Tyr220= | |
| XM_017002114.1:c.381C>T | XP_016857603.1:p.Tyr127= | |
| XM_017002115.1:c.381C>T | XP_016857604.1:p.Tyr127= | |
| XM_017002116.1:c.378C>T | XP_016857605.1:p.Tyr126= | |
| XM_017002120.1:c.339C>T | XP_016857609.1:p.Tyr113= | |
| XM_017002121.1:c.339C>T | XP_016857610.1:p.Tyr113= | |
| XR_001737368.1:n.1060C>T | ||
| XR_946742.2:n.1060C>T | ||
| XR_946743.2:n.1060C>T | ||
| XR_946744.2:n.1060C>T | ||
| XR_946745.2:n.1092C>T | ||
| NM_001270459.2:c.660C>T | NP_001257388.1:p.Tyr220= | |
| NM_001270460.2:c.567C>T | NP_001257389.1:p.Tyr189= | |
| NM_001270461.3:c.612C>T | NP_001257390.1:p.Tyr204= | |
| NM_001270462.3:c.519C>T | NP_001257391.1:p.Tyr173= | |
| NM_001270463.3:c.554+380C>T | NP_001257392.1:n.554+380C>T | |
| NM_001270464.3:c.509+380C>T | NP_001257393.1:n.509+380C>T | |
| NM_001350619.2:c.705C>T | NP_001337548.1:p.Tyr235= | |
| NM_001350620.2:c.660C>T | NP_001337549.1:p.Tyr220= | |
| NM_001350621.2:c.381C>T | NP_001337550.1:p.Tyr127= | |
| NM_001363573.2:c.822C>T | NP_001350502.1:p.Tyr274= | |
| NM_006279.5:c.660C>T MANE Select | NP_006270.1:p.Tyr220= | |
| NM_174963.5:c.867C>T | NP_777623.2:p.Tyr289= | |
| NM_174964.4:c.705C>T | NP_777624.1:p.Tyr235= | |
| NM_174966.4:c.660C>T | NP_777626.1:p.Tyr220= | |
| NM_174967.4:c.397+5166C>T | NP_777627.1:n.397+5166C>T | |
| NM_174968.5:c.822C>T | NP_777628.2:p.Tyr274= | |
| NM_174969.4:c.612C>T | NP_777629.1:p.Tyr204= | |
| NM_174970.4:c.349+5166C>T | NP_777630.1:n.349+5166C>T | |
| NM_174971.5:c.774C>T | NP_777631.2:p.Tyr258= | |
| NR_073016.3:n.880C>T | ||
| NR_073017.3:n.757C>T | ||
| NR_073018.3:n.1021C>T | ||
| NR_073019.3:n.696C>T | ||
| NR_073020.3:n.697+380C>T | ||
| NR_073021.3:n.919+380C>T | ||
| NR_073023.3:n.585+5166C>T | ||
| NR_146867.2:n.880C>T | ||
| NM_001270465.3:c.*22+354C>T | NP_001257394.1:n.*22+354C>T | |
| NM_001270466.3:c.255-30489C>T | NP_001257395.1:n.255-30489C>T | |
| NM_174965.4:c.442+5166C>T | NP_777625.1:n.442+5166C>T |