Revel Score:
ENST00000372367
0.241
ENST00000528371
0.241
ENST00000531816
0.241
ENST00000545417
0.331
ENST00000330208
0.331
ENST00000361812
0.331
ENST00000372362
0.331
ENST00000531451
0.331
ENST00000490502
0.331
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43930161A>G , CM000663.2:g.43930161A>G | GRCh38 |
| NC_000001.10:g.44395833A>G , CM000663.1:g.44395833A>G | GRCh37 |
| NC_000001.9:g.44168420A>G | NCBI36 |
| NG_028196.1:g.227616A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262915.8:c.1275A>G | ENSP00000262915.3:p.Lys425= | |
| ENST00000332628.11:c.854A>G | ||
| ENST00000347631.8:c.1068A>G MANE Select | ENSP00000317192.6:p.Lys356= | |
| ENST00000351035.8:c.1230A>G | ENSP00000316999.6:p.Lys410= | |
| ENST00000353126.8:c.774A>G | ENSP00000330463.3:p.Lys258= | |
| ENST00000361392.9:c.1113A>G | ENSP00000355341.5:p.Lys371= | |
| ENST00000361400.9:c.1020A>G | ENSP00000354748.4:p.Lys340= | |
| ENST00000361746.9:c.1161A>G | ENSP00000354657.5:p.Lys387= | |
| ENST00000361812.9:c.472A>G | ENSP00000355201.4:p.Arg158Gly | |
| ENST00000372366.6:c.610A>G | ENSP00000361441.1:n.610A>G | |
| ENST00000372368.7:c.1083A>G | ENSP00000361443.3:p.Lys361= | |
| ENST00000372372.7:c.1182A>G | ENSP00000361447.2:p.Lys394= | |
| ENST00000372374.7:c.975A>G | ENSP00000361449.2:p.Lys325= | |
| ENST00000469715.6:c.916A>G | ENSP00000431700.2:n.916A>G | |
| ENST00000489897.6:c.*395A>G | ENSP00000437206.1:n.*395A>G | |
| ENST00000490541.6:c.977A>G | ENSP00000435018.2:n.977A>G | |
| ENST00000495482.2:n.1615A>G | ||
| ENST00000531993.6:c.633A>G | ENSP00000432682.2:p.Lys211= | |
| ENST00000533933.6:c.864A>G | ENSP00000432965.2:p.Lys288= | |
| ENST00000533997.6:c.*599A>G | ENSP00000432071.1:n.*599A>G | |
| ENST00000642194.1:c.*265A>G | ENSP00000493708.1:n.*265A>G | |
| ENST00000642331.1:c.1309A>G | ENSP00000493823.1:p.Arg437Gly | |
| ENST00000642504.1:c.*893A>G | ENSP00000494857.1:n.*893A>G | |
| ENST00000642780.1:c.892A>G | ||
| ENST00000642934.1:c.726A>G | ENSP00000494146.1:p.Lys242= | |
| ENST00000642949.1:c.*530A>G | ENSP00000495709.1:n.*530A>G | |
| ENST00000643252.1:c.1264A>G | ENSP00000495333.1:p.Arg422Gly | |
| ENST00000643283.1:c.*530A>G | ENSP00000494746.1:n.*530A>G | |
| ENST00000643597.1:c.*218A>G | ENSP00000495977.1:n.*218A>G | |
| ENST00000643813.1:c.1113A>G | ENSP00000496646.1:n.1113A>G | |
| ENST00000644016.1:n.1038A>G | ||
| ENST00000644195.1:c.1068A>G | ENSP00000494201.1:p.Lys356= | |
| ENST00000644287.1:c.974A>G | ||
| ENST00000644378.1:n.618A>G | ||
| ENST00000644645.1:c.560A>G | ENSP00000495647.1:n.560A>G | |
| ENST00000644922.1:c.741A>G | ENSP00000496289.1:p.Lys247= | |
| ENST00000645012.1:n.716A>G | ||
| ENST00000645057.1:c.*2390A>G | ENSP00000494063.1:n.*2390A>G | |
| ENST00000645117.1:c.549A>G | ||
| ENST00000645142.1:c.*726A>G | ENSP00000496550.1:n.*726A>G | |
| ENST00000645165.1:c.*876A>G | ENSP00000493660.1:n.*876A>G | |
| ENST00000645394.1:c.*530A>G | ENSP00000495299.1:n.*530A>G | |
| ENST00000645640.1:c.*1072A>G | ENSP00000494852.1:n.*1072A>G | |
| ENST00000645644.1:n.1030A>G | ||
| ENST00000645670.1:n.1822A>G | ||
| ENST00000645705.1:c.*728A>G | ENSP00000496492.1:n.*728A>G | |
| ENST00000646027.1:c.*146A>G | ENSP00000494396.1:n.*146A>G | |
| ENST00000646069.1:c.*124A>G | ENSP00000496585.1:n.*124A>G | |
| ENST00000646686.1:c.1216A>G | ENSP00000495683.1:p.Arg406Gly | |
| ENST00000646971.1:c.1068A>G | ENSP00000495887.1:p.Lys356= | |
| ENST00000647128.1:c.*140A>G | ENSP00000494374.1:n.*140A>G | |
| ENST00000647134.1:c.*893A>G | ENSP00000495797.1:n.*893A>G | |
| ENST00000647148.1:c.1195A>G | ENSP00000495939.1:p.Arg399Gly | |
| ENST00000647237.1:c.936A>G | ENSP00000495624.1:p.Lys312= | |
| ENST00000647482.1:c.*662A>G | ENSP00000495567.1:n.*662A>G | |
| ENST00000647503.1:c.469A>G | ||
| ENST00000262915.7:c.1275A>G | ENSP00000262915.3:p.Lys425= | |
| ENST00000330208.6:c.284A>G | ENSP00000333494.3:p.Lys95Arg | |
| ENST00000332628.10:c.975A>G | ENSP00000329755.6:p.Lys325= | |
| ENST00000335430.10:c.*52A>G | ENSP00000335633.7:n.*52A>G | |
| ENST00000347631.6:c.1113A>G | ENSP00000317192.4:p.Lys371= | |
| ENST00000351035.7:c.1182A>G | ENSP00000316999.5:p.Lys394= | |
| ENST00000353126.7:c.774A>G | ENSP00000330463.3:p.Lys258= | |
| ENST00000361392.8:c.1068A>G | ENSP00000355341.4:p.Lys356= | |
| ENST00000361400.8:c.1020A>G | ENSP00000354748.4:p.Lys340= | |
| ENST00000361746.8:c.1275A>G | ENSP00000354657.4:p.Lys425= | |
| ENST00000361812.8:c.472A>G | ENSP00000355201.4:p.Arg158Gly | |
| ENST00000372362.6:c.427A>G | ENSP00000361437.2:p.Arg143Gly | |
| ENST00000372365.5:c.613A>G | ENSP00000361440.1:n.613A>G | |
| ENST00000372366.5:c.610A>G | ENSP00000361441.1:n.610A>G | |
| ENST00000372367.5:c.584A>G | ENSP00000361442.1:p.Lys195Arg | |
| ENST00000372368.6:c.1230A>G | ENSP00000361443.2:p.Lys410= | |
| ENST00000372369.5:c.978A>G | ENSP00000361444.1:p.Lys326= | |
| ENST00000372372.6:c.1182A>G | ENSP00000361447.2:p.Lys394= | |
| ENST00000372374.6:c.975A>G | ENSP00000361449.2:p.Lys325= | |
| ENST00000469715.5:c.1100A>G | ENSP00000431700.1:n.1100A>G | |
| ENST00000489897.5:c.*395A>G | ENSP00000437206.1:n.*395A>G | |
| ENST00000490502.1:c.577A>G | ||
| ENST00000490541.5:c.916A>G | ENSP00000435018.1:n.916A>G | |
| ENST00000495482.1:n.605A>G | ||
| ENST00000528371.5:c.539A>G | ENSP00000434876.1:p.Lys180Arg | |
| ENST00000530581.5:c.833A>G | ENSP00000437293.1:n.833A>G | |
| ENST00000531451.5:c.379A>G | ENSP00000435603.1:p.Arg127Gly | |
| ENST00000531816.1:c.284A>G | ENSP00000434378.1:p.Lys95Arg | |
| ENST00000531993.5:c.726A>G | ENSP00000432682.1:p.Lys242= | |
| ENST00000533212.5:c.721A>G | ENSP00000435621.1:n.721A>G | |
| ENST00000533933.5:c.774A>G | ENSP00000432965.1:p.Lys258= | |
| ENST00000533997.5:c.947A>G | ENSP00000432071.1:n.947A>G | |
| ENST00000545417.5:c.472A>G | ENSP00000439634.1:p.Arg158Gly | |
| NM_001270459.1:c.978A>G | NP_001257388.1:p.Lys326= | |
| NM_001270460.1:c.975A>G | NP_001257389.1:p.Lys325= | |
| NM_001270461.1:c.726A>G | NP_001257390.1:p.Lys242= | |
| NM_001270462.1:c.633A>G | NP_001257391.1:p.Lys211= | |
| NM_001270463.1:c.584A>G | NP_001257392.1:p.Lys195Arg | |
| NM_001270464.1:c.539A>G | NP_001257393.1:p.Lys180Arg | |
| NM_001270465.1:c.*52A>G | NP_001257394.1:n.*52A>G | |
| NM_001270466.1:c.284A>G | NP_001257395.1:p.Lys95Arg | |
| NM_006279.3:c.1068A>G | NP_006270.1:p.Lys356= | |
| NM_174963.3:c.1275A>G | NP_777623.2:p.Lys425= | |
| NM_174964.2:c.1113A>G | NP_777624.1:p.Lys371= | |
| NM_174965.2:c.472A>G | NP_777625.1:p.Arg158Gly | |
| NM_174966.2:c.774A>G | NP_777626.1:p.Lys258= | |
| NM_174967.2:c.427A>G | NP_777627.1:p.Arg143Gly | |
| NM_174968.3:c.1230A>G | NP_777628.2:p.Lys410= | |
| NM_174969.2:c.1020A>G | NP_777629.1:p.Lys340= | |
| NM_174970.2:c.379A>G | NP_777630.1:p.Arg127Gly | |
| NM_174971.3:c.1182A>G | NP_777631.2:p.Lys394= | |
| NR_073016.1:n.1291A>G | ||
| NR_073017.1:n.1168A>G | ||
| NR_073018.1:n.1138A>G | ||
| NR_073019.1:n.1107A>G | ||
| NR_073020.1:n.1024A>G | ||
| NR_073021.1:n.952A>G | ||
| NR_073023.1:n.912A>G | ||
| XM_006710825.2:c.1264A>G | XP_006710888.1:p.Arg422Gly | |
| XM_006710826.2:c.1261A>G | XP_006710889.1:p.Arg421Gly | |
| XM_006710827.2:c.1216A>G | XP_006710890.1:p.Arg406Gly | |
| XM_006710828.2:c.985A>G | XP_006710891.1:p.Arg329Gly | |
| XM_006710829.2:c.943A>G | XP_006710892.1:p.Arg315Gly | |
| XM_011541972.1:c.1471A>G | XP_011540274.1:p.Arg491Gly | |
| XM_011541974.1:c.1426A>G | XP_011540276.1:p.Arg476Gly | |
| XM_011541975.1:c.1423A>G | XP_011540277.1:p.Arg475Gly | |
| XM_011541976.1:c.1378A>G | XP_011540278.1:p.Arg460Gly | |
| XM_011541977.1:c.1309A>G | XP_011540279.1:p.Arg437Gly | |
| XM_011541978.1:c.1303A>G | XP_011540280.1:p.Arg435Gly | |
| XM_011541979.1:c.1141A>G | XP_011540281.1:p.Arg381Gly | |
| XM_011541980.1:c.1099A>G | XP_011540282.1:p.Arg367Gly | |
| XM_011541981.1:c.981A>G | XP_011540283.1:p.Lys327= | |
| XM_011541982.1:c.985A>G | XP_011540284.1:p.Arg329Gly | |
| XM_011541983.1:c.982A>G | XP_011540285.1:p.Arg328Gly | |
| XM_011541987.1:c.943A>G | XP_011540289.1:p.Arg315Gly | |
| XM_011541988.1:c.943A>G | XP_011540290.1:p.Arg315Gly | |
| XM_011541989.1:c.*52A>G | XP_011540291.1:n.*52A>G | |
| XM_011541990.1:c.625A>G | XP_011540292.1:p.Arg209Gly | |
| NM_001270461.2:c.726A>G | NP_001257390.1:p.Lys242= | |
| NM_001270462.2:c.633A>G | NP_001257391.1:p.Lys211= | |
| NM_001270463.2:c.584A>G | NP_001257392.1:p.Lys195Arg | |
| NM_001270464.2:c.539A>G | NP_001257393.1:p.Lys180Arg | |
| NM_001270465.2:c.*52A>G | NP_001257394.1:n.*52A>G | |
| NM_001270466.2:c.284A>G | NP_001257395.1:p.Lys95Arg | |
| NM_001350619.1:c.1309A>G | NP_001337548.1:p.Arg437Gly | |
| NM_001350620.1:c.1264A>G | NP_001337549.1:p.Arg422Gly | |
| NM_001350621.1:c.985A>G | NP_001337550.1:p.Arg329Gly | |
| NM_001363573.1:c.936A>G | NP_001350502.1:p.Lys312= | |
| NM_006279.4:c.1068A>G | NP_006270.1:p.Lys356= | |
| NM_174963.4:c.1275A>G | NP_777623.2:p.Lys425= | |
| NM_174964.3:c.1113A>G | NP_777624.1:p.Lys371= | |
| NM_174965.3:c.472A>G | NP_777625.1:p.Arg158Gly | |
| NM_174966.3:c.774A>G | NP_777626.1:p.Lys258= | |
| NM_174967.3:c.427A>G | NP_777627.1:p.Arg143Gly | |
| NM_174968.4:c.1230A>G | NP_777628.2:p.Lys410= | |
| NM_174969.3:c.1020A>G | NP_777629.1:p.Lys340= | |
| NM_174970.3:c.379A>G | NP_777630.1:p.Arg127Gly | |
| NM_174971.4:c.1182A>G | NP_777631.2:p.Lys394= | |
| NR_073016.2:n.1327A>G | ||
| NR_073017.2:n.1204A>G | ||
| NR_073018.2:n.1174A>G | ||
| NR_073019.2:n.1143A>G | ||
| NR_073020.2:n.1060A>G | ||
| NR_073021.2:n.988A>G | ||
| NR_073023.2:n.948A>G | ||
| NR_146867.1:n.1523A>G | ||
| XM_006710827.4:c.1216A>G | XP_006710890.1:p.Arg406Gly | |
| XM_011541974.2:c.1426A>G | XP_011540276.1:p.Arg476Gly | |
| XM_011541976.2:c.1378A>G | XP_011540278.1:p.Arg460Gly | |
| XM_011541980.3:c.1099A>G | XP_011540282.1:p.Arg367Gly | |
| XM_011541981.2:c.981A>G | XP_011540283.1:p.Lys327= | |
| XM_011541983.2:c.982A>G | XP_011540285.1:p.Arg328Gly | |
| XM_011541987.2:c.943A>G | XP_011540289.1:p.Arg315Gly | |
| XM_011541988.2:c.943A>G | XP_011540290.1:p.Arg315Gly | |
| XM_017002109.2:c.1471A>G | XP_016857598.1:p.Arg491Gly | |
| XM_017002113.1:c.1068A>G | XP_016857602.1:p.Lys356= | |
| XM_017002114.1:c.985A>G | XP_016857603.1:p.Arg329Gly | |
| XM_017002115.1:c.985A>G | XP_016857604.1:p.Arg329Gly | |
| XM_017002116.1:c.982A>G | XP_016857605.1:p.Arg328Gly | |
| XM_017002120.1:c.747A>G | XP_016857609.1:p.Lys249= | |
| XM_017002121.1:c.747A>G | XP_016857610.1:p.Lys249= | |
| XR_946745.2:n.1500A>G | ||
| NM_001270459.2:c.978A>G | NP_001257388.1:p.Lys326= | |
| NM_001270460.2:c.975A>G | NP_001257389.1:p.Lys325= | |
| NM_001270461.3:c.726A>G | NP_001257390.1:p.Lys242= | |
| NM_001270462.3:c.633A>G | NP_001257391.1:p.Lys211= | |
| NM_001270463.3:c.584A>G | NP_001257392.1:p.Lys195Arg | |
| NM_001270464.3:c.539A>G | NP_001257393.1:p.Lys180Arg | |
| NM_001350619.2:c.1309A>G | NP_001337548.1:p.Arg437Gly | |
| NM_001350620.2:c.1264A>G | NP_001337549.1:p.Arg422Gly | |
| NM_001350621.2:c.985A>G | NP_001337550.1:p.Arg329Gly | |
| NM_001363573.2:c.936A>G | NP_001350502.1:p.Lys312= | |
| NM_006279.5:c.1068A>G MANE Select | NP_006270.1:p.Lys356= | |
| NM_174963.5:c.1275A>G | NP_777623.2:p.Lys425= | |
| NM_174964.4:c.1113A>G | NP_777624.1:p.Lys371= | |
| NM_174966.4:c.774A>G | NP_777626.1:p.Lys258= | |
| NM_174967.4:c.427A>G | NP_777627.1:p.Arg143Gly | |
| NM_174968.5:c.1230A>G | NP_777628.2:p.Lys410= | |
| NM_174969.4:c.1020A>G | NP_777629.1:p.Lys340= | |
| NM_174970.4:c.379A>G | NP_777630.1:p.Arg127Gly | |
| NM_174971.5:c.1182A>G | NP_777631.2:p.Lys394= | |
| NR_073016.3:n.1288A>G | ||
| NR_073017.3:n.1165A>G | ||
| NR_073018.3:n.1135A>G | ||
| NR_073019.3:n.1104A>G | ||
| NR_073020.3:n.1021A>G | ||
| NR_073021.3:n.949A>G | ||
| NR_073023.3:n.909A>G | ||
| NR_146867.2:n.1484A>G | ||
| NM_001270465.3:c.*52A>G | NP_001257394.1:n.*52A>G | |
| NM_001270466.3:c.284A>G | NP_001257395.1:p.Lys95Arg | |
| NM_174965.4:c.472A>G | NP_777625.1:p.Arg158Gly |