Revel Score:
ENST00000372367
0.119
ENST00000528371
0.119
ENST00000531816
0.119
ENST00000361392
0.043
ENST00000361400
0.043
ENST00000262915
0.043
ENST00000372375
0.043
ENST00000351035
0.043
ENST00000372374
0.043
ENST00000353126
0.043
ENST00000347631 (MANE Select)
0.043
ENST00000372369
0.043
ENST00000361746
0.043
ENST00000372368
0.043
ENST00000372372
0.043
ENST00000531993
0.043
ENST00000533933
0.043
ENST00000332628
0.043
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00439496 (SAS)
Genomes Max Group AF
0.00429473 (SAS)
Exomes Max Group AF
0.00431811 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43930172G>A , CM000663.2:g.43930172G>A | GRCh38 |
| NC_000001.10:g.44395844G>A , CM000663.1:g.44395844G>A | GRCh37 |
| NC_000001.9:g.44168431G>A | NCBI36 |
| NG_028196.1:g.227627G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262915.8:c.1286G>A | ENSP00000262915.3:p.Arg429Gln | |
| ENST00000332628.11:c.865G>A | ||
| ENST00000347631.8:c.1079G>A MANE Select | ENSP00000317192.6:p.Arg360Gln | |
| ENST00000351035.8:c.1241G>A | ENSP00000316999.6:p.Arg414Gln | |
| ENST00000353126.8:c.785G>A | ENSP00000330463.3:p.Arg262Gln | |
| ENST00000361392.9:c.1124G>A | ENSP00000355341.5:p.Arg375Gln | |
| ENST00000361400.9:c.1031G>A | ENSP00000354748.4:p.Arg344Gln | |
| ENST00000361746.9:c.1172G>A | ENSP00000354657.5:p.Arg391Gln | |
| ENST00000361812.9:c.483G>A | ENSP00000355201.4:p.Ala161= | |
| ENST00000372366.6:c.621G>A | ENSP00000361441.1:n.621G>A | |
| ENST00000372368.7:c.1094G>A | ENSP00000361443.3:p.Arg365Gln | |
| ENST00000372372.7:c.1193G>A | ENSP00000361447.2:p.Arg398Gln | |
| ENST00000372374.7:c.986G>A | ENSP00000361449.2:p.Arg329Gln | |
| ENST00000469715.6:c.927G>A | ENSP00000431700.2:n.927G>A | |
| ENST00000489897.6:c.*406G>A | ENSP00000437206.1:n.*406G>A | |
| ENST00000490541.6:c.988G>A | ENSP00000435018.2:n.988G>A | |
| ENST00000495482.2:n.1626G>A | ||
| ENST00000531993.6:c.644G>A | ENSP00000432682.2:p.Arg215Gln | |
| ENST00000533933.6:c.875G>A | ENSP00000432965.2:p.Arg292Gln | |
| ENST00000533997.6:c.*610G>A | ENSP00000432071.1:n.*610G>A | |
| ENST00000642194.1:c.*276G>A | ENSP00000493708.1:n.*276G>A | |
| ENST00000642331.1:c.1320G>A | ENSP00000493823.1:p.Ala440= | |
| ENST00000642504.1:c.*904G>A | ENSP00000494857.1:n.*904G>A | |
| ENST00000642780.1:c.903G>A | ||
| ENST00000642934.1:c.737G>A | ENSP00000494146.1:p.Arg246Gln | |
| ENST00000642949.1:c.*541G>A | ENSP00000495709.1:n.*541G>A | |
| ENST00000643252.1:c.1275G>A | ENSP00000495333.1:p.Ala425= | |
| ENST00000643283.1:c.*541G>A | ENSP00000494746.1:n.*541G>A | |
| ENST00000643597.1:c.*229G>A | ENSP00000495977.1:n.*229G>A | |
| ENST00000643813.1:c.1124G>A | ENSP00000496646.1:n.1124G>A | |
| ENST00000644016.1:n.1049G>A | ||
| ENST00000644195.1:c.1079G>A | ENSP00000494201.1:p.Arg360Gln | |
| ENST00000644287.1:c.985G>A | ||
| ENST00000644378.1:n.629G>A | ||
| ENST00000644645.1:c.571G>A | ENSP00000495647.1:n.571G>A | |
| ENST00000644922.1:c.752G>A | ENSP00000496289.1:p.Arg251Gln | |
| ENST00000645012.1:n.727G>A | ||
| ENST00000645057.1:c.*2401G>A | ENSP00000494063.1:n.*2401G>A | |
| ENST00000645117.1:c.560G>A | ||
| ENST00000645142.1:c.*737G>A | ENSP00000496550.1:n.*737G>A | |
| ENST00000645165.1:c.*887G>A | ENSP00000493660.1:n.*887G>A | |
| ENST00000645394.1:c.*541G>A | ENSP00000495299.1:n.*541G>A | |
| ENST00000645640.1:c.*1083G>A | ENSP00000494852.1:n.*1083G>A | |
| ENST00000645644.1:n.1041G>A | ||
| ENST00000645670.1:n.1833G>A | ||
| ENST00000645705.1:c.*739G>A | ENSP00000496492.1:n.*739G>A | |
| ENST00000646027.1:c.*157G>A | ENSP00000494396.1:n.*157G>A | |
| ENST00000646069.1:c.*135G>A | ENSP00000496585.1:n.*135G>A | |
| ENST00000646686.1:c.1227G>A | ENSP00000495683.1:p.Ala409= | |
| ENST00000646971.1:c.1079G>A | ENSP00000495887.1:p.Arg360Gln | |
| ENST00000647128.1:c.*151G>A | ENSP00000494374.1:n.*151G>A | |
| ENST00000647134.1:c.*904G>A | ENSP00000495797.1:n.*904G>A | |
| ENST00000647148.1:c.1206G>A | ENSP00000495939.1:p.Ala402= | |
| ENST00000647237.1:c.947G>A | ENSP00000495624.1:p.Arg316Gln | |
| ENST00000647482.1:c.*673G>A | ENSP00000495567.1:n.*673G>A | |
| ENST00000647503.1:c.480G>A | ||
| ENST00000262915.7:c.1286G>A | ENSP00000262915.3:p.Arg429Gln | |
| ENST00000330208.6:c.295G>A | ENSP00000333494.3:p.Gly99Arg | |
| ENST00000332628.10:c.986G>A | ENSP00000329755.6:p.Arg329Gln | |
| ENST00000335430.10:c.*63G>A | ENSP00000335633.7:n.*63G>A | |
| ENST00000347631.6:c.1124G>A | ENSP00000317192.4:p.Arg375Gln | |
| ENST00000351035.7:c.1193G>A | ENSP00000316999.5:p.Arg398Gln | |
| ENST00000353126.7:c.785G>A | ENSP00000330463.3:p.Arg262Gln | |
| ENST00000361392.8:c.1079G>A | ENSP00000355341.4:p.Arg360Gln | |
| ENST00000361400.8:c.1031G>A | ENSP00000354748.4:p.Arg344Gln | |
| ENST00000361746.8:c.1286G>A | ENSP00000354657.4:p.Arg429Gln | |
| ENST00000361812.8:c.483G>A | ENSP00000355201.4:p.Ala161= | |
| ENST00000372362.6:c.438G>A | ENSP00000361437.2:p.Ala146= | |
| ENST00000372365.5:c.624G>A | ENSP00000361440.1:n.624G>A | |
| ENST00000372366.5:c.621G>A | ENSP00000361441.1:n.621G>A | |
| ENST00000372367.5:c.595G>A | ENSP00000361442.1:p.Gly199Arg | |
| ENST00000372368.6:c.1241G>A | ENSP00000361443.2:p.Arg414Gln | |
| ENST00000372369.5:c.989G>A | ENSP00000361444.1:p.Arg330Gln | |
| ENST00000372372.6:c.1193G>A | ENSP00000361447.2:p.Arg398Gln | |
| ENST00000372374.6:c.986G>A | ENSP00000361449.2:p.Arg329Gln | |
| ENST00000469715.5:c.1111G>A | ENSP00000431700.1:n.1111G>A | |
| ENST00000489897.5:c.*406G>A | ENSP00000437206.1:n.*406G>A | |
| ENST00000490502.1:c.588G>A | ||
| ENST00000490541.5:c.927G>A | ENSP00000435018.1:n.927G>A | |
| ENST00000495482.1:n.616G>A | ||
| ENST00000528371.5:c.550G>A | ENSP00000434876.1:p.Gly184Arg | |
| ENST00000530581.5:c.844G>A | ENSP00000437293.1:n.844G>A | |
| ENST00000531451.5:c.390G>A | ENSP00000435603.1:p.Ala130= | |
| ENST00000531816.1:c.295G>A | ENSP00000434378.1:p.Gly99Arg | |
| ENST00000531993.5:c.737G>A | ENSP00000432682.1:p.Arg246Gln | |
| ENST00000533212.5:c.732G>A | ENSP00000435621.1:n.732G>A | |
| ENST00000533933.5:c.785G>A | ENSP00000432965.1:p.Arg262Gln | |
| ENST00000533997.5:c.958G>A | ENSP00000432071.1:n.958G>A | |
| ENST00000545417.5:c.483G>A | ENSP00000439634.1:p.Ala161= | |
| NM_001270459.1:c.989G>A | NP_001257388.1:p.Arg330Gln | |
| NM_001270460.1:c.986G>A | NP_001257389.1:p.Arg329Gln | |
| NM_001270461.1:c.737G>A | NP_001257390.1:p.Arg246Gln | |
| NM_001270462.1:c.644G>A | NP_001257391.1:p.Arg215Gln | |
| NM_001270463.1:c.595G>A | NP_001257392.1:p.Gly199Arg | |
| NM_001270464.1:c.550G>A | NP_001257393.1:p.Gly184Arg | |
| NM_001270465.1:c.*63G>A | NP_001257394.1:n.*63G>A | |
| NM_001270466.1:c.295G>A | NP_001257395.1:p.Gly99Arg | |
| NM_006279.3:c.1079G>A | NP_006270.1:p.Arg360Gln | |
| NM_174963.3:c.1286G>A | NP_777623.2:p.Arg429Gln | |
| NM_174964.2:c.1124G>A | NP_777624.1:p.Arg375Gln | |
| NM_174965.2:c.483G>A | NP_777625.1:p.Ala161= | |
| NM_174966.2:c.785G>A | NP_777626.1:p.Arg262Gln | |
| NM_174967.2:c.438G>A | NP_777627.1:p.Ala146= | |
| NM_174968.3:c.1241G>A | NP_777628.2:p.Arg414Gln | |
| NM_174969.2:c.1031G>A | NP_777629.1:p.Arg344Gln | |
| NM_174970.2:c.390G>A | NP_777630.1:p.Ala130= | |
| NM_174971.3:c.1193G>A | NP_777631.2:p.Arg398Gln | |
| NR_073016.1:n.1302G>A | ||
| NR_073017.1:n.1179G>A | ||
| NR_073018.1:n.1149G>A | ||
| NR_073019.1:n.1118G>A | ||
| NR_073020.1:n.1035G>A | ||
| NR_073021.1:n.963G>A | ||
| NR_073023.1:n.923G>A | ||
| XM_006710825.2:c.1275G>A | XP_006710888.1:p.Ala425= | |
| XM_006710826.2:c.1272G>A | XP_006710889.1:p.Ala424= | |
| XM_006710827.2:c.1227G>A | XP_006710890.1:p.Ala409= | |
| XM_006710828.2:c.996G>A | XP_006710891.1:p.Ala332= | |
| XM_006710829.2:c.954G>A | XP_006710892.1:p.Ala318= | |
| XM_011541972.1:c.1482G>A | XP_011540274.1:p.Ala494= | |
| XM_011541974.1:c.1437G>A | XP_011540276.1:p.Ala479= | |
| XM_011541975.1:c.1434G>A | XP_011540277.1:p.Ala478= | |
| XM_011541976.1:c.1389G>A | XP_011540278.1:p.Ala463= | |
| XM_011541977.1:c.1320G>A | XP_011540279.1:p.Ala440= | |
| XM_011541978.1:c.1314G>A | XP_011540280.1:p.Ala438= | |
| XM_011541979.1:c.1152G>A | XP_011540281.1:p.Ala384= | |
| XM_011541980.1:c.1110G>A | XP_011540282.1:p.Ala370= | |
| XM_011541981.1:c.992G>A | XP_011540283.1:p.Arg331Gln | |
| XM_011541982.1:c.996G>A | XP_011540284.1:p.Ala332= | |
| XM_011541983.1:c.993G>A | XP_011540285.1:p.Ala331= | |
| XM_011541987.1:c.954G>A | XP_011540289.1:p.Ala318= | |
| XM_011541988.1:c.954G>A | XP_011540290.1:p.Ala318= | |
| XM_011541989.1:c.*63G>A | XP_011540291.1:n.*63G>A | |
| XM_011541990.1:c.636G>A | XP_011540292.1:p.Ala212= | |
| NM_001270461.2:c.737G>A | NP_001257390.1:p.Arg246Gln | |
| NM_001270462.2:c.644G>A | NP_001257391.1:p.Arg215Gln | |
| NM_001270463.2:c.595G>A | NP_001257392.1:p.Gly199Arg | |
| NM_001270464.2:c.550G>A | NP_001257393.1:p.Gly184Arg | |
| NM_001270465.2:c.*63G>A | NP_001257394.1:n.*63G>A | |
| NM_001270466.2:c.295G>A | NP_001257395.1:p.Gly99Arg | |
| NM_001350619.1:c.1320G>A | NP_001337548.1:p.Ala440= | |
| NM_001350620.1:c.1275G>A | NP_001337549.1:p.Ala425= | |
| NM_001350621.1:c.996G>A | NP_001337550.1:p.Ala332= | |
| NM_001363573.1:c.947G>A | NP_001350502.1:p.Arg316Gln | |
| NM_006279.4:c.1079G>A | NP_006270.1:p.Arg360Gln | |
| NM_174963.4:c.1286G>A | NP_777623.2:p.Arg429Gln | |
| NM_174964.3:c.1124G>A | NP_777624.1:p.Arg375Gln | |
| NM_174965.3:c.483G>A | NP_777625.1:p.Ala161= | |
| NM_174966.3:c.785G>A | NP_777626.1:p.Arg262Gln | |
| NM_174967.3:c.438G>A | NP_777627.1:p.Ala146= | |
| NM_174968.4:c.1241G>A | NP_777628.2:p.Arg414Gln | |
| NM_174969.3:c.1031G>A | NP_777629.1:p.Arg344Gln | |
| NM_174970.3:c.390G>A | NP_777630.1:p.Ala130= | |
| NM_174971.4:c.1193G>A | NP_777631.2:p.Arg398Gln | |
| NR_073016.2:n.1338G>A | ||
| NR_073017.2:n.1215G>A | ||
| NR_073018.2:n.1185G>A | ||
| NR_073019.2:n.1154G>A | ||
| NR_073020.2:n.1071G>A | ||
| NR_073021.2:n.999G>A | ||
| NR_073023.2:n.959G>A | ||
| NR_146867.1:n.1534G>A | ||
| XM_006710827.4:c.1227G>A | XP_006710890.1:p.Ala409= | |
| XM_011541974.2:c.1437G>A | XP_011540276.1:p.Ala479= | |
| XM_011541976.2:c.1389G>A | XP_011540278.1:p.Ala463= | |
| XM_011541980.3:c.1110G>A | XP_011540282.1:p.Ala370= | |
| XM_011541981.2:c.992G>A | XP_011540283.1:p.Arg331Gln | |
| XM_011541983.2:c.993G>A | XP_011540285.1:p.Ala331= | |
| XM_011541987.2:c.954G>A | XP_011540289.1:p.Ala318= | |
| XM_011541988.2:c.954G>A | XP_011540290.1:p.Ala318= | |
| XM_017002109.2:c.1482G>A | XP_016857598.1:p.Ala494= | |
| XM_017002113.1:c.1079G>A | XP_016857602.1:p.Arg360Gln | |
| XM_017002114.1:c.996G>A | XP_016857603.1:p.Ala332= | |
| XM_017002115.1:c.996G>A | XP_016857604.1:p.Ala332= | |
| XM_017002116.1:c.993G>A | XP_016857605.1:p.Ala331= | |
| XM_017002120.1:c.758G>A | XP_016857609.1:p.Arg253Gln | |
| XM_017002121.1:c.758G>A | XP_016857610.1:p.Arg253Gln | |
| XR_946745.2:n.1511G>A | ||
| NM_001270459.2:c.989G>A | NP_001257388.1:p.Arg330Gln | |
| NM_001270460.2:c.986G>A | NP_001257389.1:p.Arg329Gln | |
| NM_001270461.3:c.737G>A | NP_001257390.1:p.Arg246Gln | |
| NM_001270462.3:c.644G>A | NP_001257391.1:p.Arg215Gln | |
| NM_001270463.3:c.595G>A | NP_001257392.1:p.Gly199Arg | |
| NM_001270464.3:c.550G>A | NP_001257393.1:p.Gly184Arg | |
| NM_001350619.2:c.1320G>A | NP_001337548.1:p.Ala440= | |
| NM_001350620.2:c.1275G>A | NP_001337549.1:p.Ala425= | |
| NM_001350621.2:c.996G>A | NP_001337550.1:p.Ala332= | |
| NM_001363573.2:c.947G>A | NP_001350502.1:p.Arg316Gln | |
| NM_006279.5:c.1079G>A MANE Select | NP_006270.1:p.Arg360Gln | |
| NM_174963.5:c.1286G>A | NP_777623.2:p.Arg429Gln | |
| NM_174964.4:c.1124G>A | NP_777624.1:p.Arg375Gln | |
| NM_174966.4:c.785G>A | NP_777626.1:p.Arg262Gln | |
| NM_174967.4:c.438G>A | NP_777627.1:p.Ala146= | |
| NM_174968.5:c.1241G>A | NP_777628.2:p.Arg414Gln | |
| NM_174969.4:c.1031G>A | NP_777629.1:p.Arg344Gln | |
| NM_174970.4:c.390G>A | NP_777630.1:p.Ala130= | |
| NM_174971.5:c.1193G>A | NP_777631.2:p.Arg398Gln | |
| NR_073016.3:n.1299G>A | ||
| NR_073017.3:n.1176G>A | ||
| NR_073018.3:n.1146G>A | ||
| NR_073019.3:n.1115G>A | ||
| NR_073020.3:n.1032G>A | ||
| NR_073021.3:n.960G>A | ||
| NR_073023.3:n.920G>A | ||
| NR_146867.2:n.1495G>A | ||
| NM_001270465.3:c.*63G>A | NP_001257394.1:n.*63G>A | |
| NM_001270466.3:c.295G>A | NP_001257395.1:p.Gly99Arg | |
| NM_174965.4:c.483G>A | NP_777625.1:p.Ala161= |