Revel Score:
ENST00000361392
0.404
ENST00000361400
0.404
ENST00000262915
0.404
ENST00000372375
0.404
ENST00000351035
0.404
ENST00000372374
0.404
ENST00000353126
0.404
ENST00000545417
0.404
ENST00000330208
0.404
ENST00000335430
0.404
ENST00000372377
0.404
ENST00000347631 (MANE Select)
0.404
ENST00000361812
0.404
ENST00000372362
0.404
ENST00000531451
0.404
ENST00000372369
0.404
ENST00000361746
0.404
ENST00000372367
0.404
ENST00000372366
0.404
ENST00000372365
0.404
ENST00000372368
0.404
ENST00000372372
0.404
ENST00000528371
0.404
ENST00000531993
0.404
ENST00000533933
0.404
ENST00000332628
0.404
ENST00000531816
0.404
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43736300C>A , CM000663.2:g.43736300C>A | GRCh38 |
| NC_000001.10:g.44201971C>A , CM000663.1:g.44201971C>A | GRCh37 |
| NC_000001.9:g.43974558C>A | NCBI36 |
| NG_028196.1:g.33754C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262915.8:c.38C>A | ENSP00000262915.3:p.Ala13Asp | |
| ENST00000347631.8:c.38C>A MANE Select | ENSP00000317192.6:p.Ala13Asp | |
| ENST00000351035.8:c.38C>A | ENSP00000316999.6:p.Ala13Asp | |
| ENST00000353126.8:c.38C>A | ENSP00000330463.3:p.Ala13Asp | |
| ENST00000361392.9:c.38C>A | ENSP00000355341.5:p.Ala13Asp | |
| ENST00000361400.9:c.38C>A | ENSP00000354748.4:p.Ala13Asp | |
| ENST00000361746.9:c.38C>A | ENSP00000354657.5:p.Ala13Asp | |
| ENST00000361812.9:c.38C>A | ENSP00000355201.4:p.Ala13Asp | |
| ENST00000372366.6:c.38C>A | ENSP00000361441.1:p.Ala13Asp | |
| ENST00000372368.7:c.38C>A | ENSP00000361443.3:p.Ala13Asp | |
| ENST00000372372.7:c.38C>A | ENSP00000361447.2:p.Ala13Asp | |
| ENST00000372374.7:c.38C>A | ENSP00000361449.2:p.Ala13Asp | |
| ENST00000469715.6:c.38C>A | ENSP00000431700.2:p.Ala13Asp | |
| ENST00000479383.6:c.38C>A | ENSP00000432214.1:p.Ala13Asp | |
| ENST00000484868.2:c.38C>A | ENSP00000496035.1:p.Ala13Asp | |
| ENST00000489897.6:c.38C>A | ENSP00000437206.1:p.Ala13Asp | |
| ENST00000490541.6:c.38C>A | ENSP00000435018.2:p.Ala13Asp | |
| ENST00000531993.6:c.38C>A | ENSP00000432682.2:p.Ala13Asp | |
| ENST00000532911.6:c.38C>A | ENSP00000431816.1:p.Ala13Asp | |
| ENST00000533997.6:c.38C>A | ENSP00000432071.1:p.Ala13Asp | |
| ENST00000642194.1:c.38C>A | ENSP00000493708.1:p.Ala13Asp | |
| ENST00000642331.1:c.38C>A | ENSP00000493823.1:p.Ala13Asp | |
| ENST00000642504.1:c.38C>A | ENSP00000494857.1:p.Ala13Asp | |
| ENST00000642934.1:c.38C>A | ENSP00000494146.1:p.Ala13Asp | |
| ENST00000642949.1:c.38C>A | ENSP00000495709.1:p.Ala13Asp | |
| ENST00000643252.1:c.38C>A | ENSP00000495333.1:p.Ala13Asp | |
| ENST00000643283.1:c.38C>A | ENSP00000494746.1:p.Ala13Asp | |
| ENST00000643597.1:c.38C>A | ENSP00000495977.1:p.Ala13Asp | |
| ENST00000643886.1:c.38C>A | ENSP00000495313.1:p.Ala13Asp | |
| ENST00000644195.1:c.38C>A | ENSP00000494201.1:p.Ala13Asp | |
| ENST00000645034.1:c.38C>A | ENSP00000496350.1:p.Ala13Asp | |
| ENST00000645057.1:c.*1360C>A | ENSP00000494063.1:n.*1360C>A | |
| ENST00000645117.1:c.22C>A | ||
| ENST00000645142.1:c.38C>A | ENSP00000496550.1:p.Ala13Asp | |
| ENST00000645165.1:c.38C>A | ENSP00000493660.1:p.Ala13Asp | |
| ENST00000645394.1:c.38C>A | ENSP00000495299.1:p.Ala13Asp | |
| ENST00000645640.1:c.38C>A | ENSP00000494852.1:p.Ala13Asp | |
| ENST00000645705.1:c.38C>A | ENSP00000496492.1:p.Ala13Asp | |
| ENST00000646027.1:c.38C>A | ENSP00000494396.1:p.Ala13Asp | |
| ENST00000646069.1:c.38C>A | ENSP00000496585.1:p.Ala13Asp | |
| ENST00000646096.1:c.38C>A | ENSP00000496444.1:p.Ala13Asp | |
| ENST00000646109.1:c.38C>A | ENSP00000493476.1:p.Ala13Asp | |
| ENST00000646416.1:n.38C>A | ||
| ENST00000646686.1:c.38C>A | ENSP00000495683.1:p.Ala13Asp | |
| ENST00000646776.1:n.196C>A | ||
| ENST00000646971.1:c.38C>A | ENSP00000495887.1:p.Ala13Asp | |
| ENST00000647128.1:c.38C>A | ENSP00000494374.1:p.Ala13Asp | |
| ENST00000647134.1:c.38C>A | ENSP00000495797.1:p.Ala13Asp | |
| ENST00000647148.1:c.38C>A | ENSP00000495939.1:p.Ala13Asp | |
| ENST00000647237.1:c.38C>A | ENSP00000495624.1:p.Ala13Asp | |
| ENST00000647482.1:c.38C>A | ENSP00000495567.1:p.Ala13Asp | |
| ENST00000262915.7:c.38C>A | ENSP00000262915.3:p.Ala13Asp | |
| ENST00000330208.6:c.38C>A | ENSP00000333494.3:p.Ala13Asp | |
| ENST00000332628.10:c.38C>A | ENSP00000329755.6:p.Ala13Asp | |
| ENST00000335430.10:c.38C>A | ENSP00000335633.7:p.Ala13Asp | |
| ENST00000347631.6:c.38C>A | ENSP00000317192.4:p.Ala13Asp | |
| ENST00000351035.7:c.38C>A | ENSP00000316999.5:p.Ala13Asp | |
| ENST00000353126.7:c.38C>A | ENSP00000330463.3:p.Ala13Asp | |
| ENST00000361392.8:c.38C>A | ENSP00000355341.4:p.Ala13Asp | |
| ENST00000361400.8:c.38C>A | ENSP00000354748.4:p.Ala13Asp | |
| ENST00000361746.8:c.38C>A | ENSP00000354657.4:p.Ala13Asp | |
| ENST00000361812.8:c.38C>A | ENSP00000355201.4:p.Ala13Asp | |
| ENST00000372362.6:c.38C>A | ENSP00000361437.2:p.Ala13Asp | |
| ENST00000372365.5:c.38C>A | ENSP00000361440.1:p.Ala13Asp | |
| ENST00000372366.5:c.38C>A | ENSP00000361441.1:p.Ala13Asp | |
| ENST00000372367.5:c.38C>A | ENSP00000361442.1:p.Ala13Asp | |
| ENST00000372368.6:c.38C>A | ENSP00000361443.2:p.Ala13Asp | |
| ENST00000372369.5:c.38C>A | ENSP00000361444.1:p.Ala13Asp | |
| ENST00000372372.6:c.38C>A | ENSP00000361447.2:p.Ala13Asp | |
| ENST00000372374.6:c.38C>A | ENSP00000361449.2:p.Ala13Asp | |
| ENST00000461066.6:c.38C>A | ENSP00000433668.1:p.Ala13Asp | |
| ENST00000469715.5:c.38C>A | ENSP00000431700.1:p.Ala13Asp | |
| ENST00000479383.5:c.38C>A | ENSP00000432214.1:p.Ala13Asp | |
| ENST00000484868.1:n.122C>A | ||
| ENST00000489897.5:c.38C>A | ENSP00000437206.1:p.Ala13Asp | |
| ENST00000490541.5:c.38C>A | ENSP00000435018.1:p.Ala13Asp | |
| ENST00000528371.5:c.38C>A | ENSP00000434876.1:p.Ala13Asp | |
| ENST00000530154.5:c.38C>A | ENSP00000434686.1:p.Ala13Asp | |
| ENST00000530581.5:c.38C>A | ENSP00000437293.1:p.Ala13Asp | |
| ENST00000531451.5:c.38C>A | ENSP00000435603.1:p.Ala13Asp | |
| ENST00000531816.1:c.38C>A | ENSP00000434378.1:p.Ala13Asp | |
| ENST00000531993.5:c.38C>A | ENSP00000432682.1:p.Ala13Asp | |
| ENST00000532911.5:c.38C>A | ENSP00000431816.1:p.Ala13Asp | |
| ENST00000533212.5:c.38C>A | ENSP00000435621.1:p.Ala13Asp | |
| ENST00000533933.5:c.38C>A | ENSP00000432965.1:p.Ala13Asp | |
| ENST00000533997.5:c.38C>A | ENSP00000432071.1:p.Ala13Asp | |
| ENST00000545417.5:c.38C>A | ENSP00000439634.1:p.Ala13Asp | |
| NM_001270459.1:c.38C>A | NP_001257388.1:p.Ala13Asp | |
| NM_001270460.1:c.38C>A | NP_001257389.1:p.Ala13Asp | |
| NM_001270461.1:c.38C>A | NP_001257390.1:p.Ala13Asp | |
| NM_001270462.1:c.38C>A | NP_001257391.1:p.Ala13Asp | |
| NM_001270463.1:c.38C>A | NP_001257392.1:p.Ala13Asp | |
| NM_001270464.1:c.38C>A | NP_001257393.1:p.Ala13Asp | |
| NM_001270465.1:c.38C>A | NP_001257394.1:p.Ala13Asp | |
| NM_001270466.1:c.38C>A | NP_001257395.1:p.Ala13Asp | |
| NM_006279.3:c.38C>A | NP_006270.1:p.Ala13Asp | |
| NM_174963.3:c.38C>A | NP_777623.2:p.Ala13Asp | |
| NM_174964.2:c.38C>A | NP_777624.1:p.Ala13Asp | |
| NM_174965.2:c.38C>A | NP_777625.1:p.Ala13Asp | |
| NM_174966.2:c.38C>A | NP_777626.1:p.Ala13Asp | |
| NM_174967.2:c.38C>A | NP_777627.1:p.Ala13Asp | |
| NM_174968.3:c.38C>A | NP_777628.2:p.Ala13Asp | |
| NM_174969.2:c.38C>A | NP_777629.1:p.Ala13Asp | |
| NM_174970.2:c.38C>A | NP_777630.1:p.Ala13Asp | |
| NM_174971.3:c.38C>A | NP_777631.2:p.Ala13Asp | |
| NR_073016.1:n.229C>A | ||
| NR_073017.1:n.229C>A | ||
| NR_073018.1:n.229C>A | ||
| NR_073019.1:n.229C>A | ||
| NR_073020.1:n.229C>A | ||
| NR_073021.1:n.229C>A | ||
| NR_073023.1:n.229C>A | ||
| XM_006710825.2:c.38C>A | XP_006710888.1:p.Ala13Asp | |
| XM_006710826.2:c.38C>A | XP_006710889.1:p.Ala13Asp | |
| XM_006710827.2:c.38C>A | XP_006710890.1:p.Ala13Asp | |
| XM_006710828.2:c.-416C>A | XP_006710891.1:n.-416C>A | |
| XM_011541972.1:c.38C>A | XP_011540274.1:p.Ala13Asp | |
| XM_011541973.1:c.38C>A | XP_011540275.1:p.Ala13Asp | |
| XM_011541974.1:c.38C>A | XP_011540276.1:p.Ala13Asp | |
| XM_011541975.1:c.38C>A | XP_011540277.1:p.Ala13Asp | |
| XM_011541976.1:c.38C>A | XP_011540278.1:p.Ala13Asp | |
| XM_011541977.1:c.38C>A | XP_011540279.1:p.Ala13Asp | |
| XM_011541981.1:c.38C>A | XP_011540283.1:p.Ala13Asp | |
| XM_011541982.1:c.-680C>A | XP_011540284.1:n.-680C>A | |
| XM_011541983.1:c.-554C>A | XP_011540285.1:n.-554C>A | |
| XM_011541984.1:c.38C>A | XP_011540286.1:p.Ala13Asp | |
| XM_011541985.1:c.38C>A | XP_011540287.1:p.Ala13Asp | |
| XM_011541986.1:c.38C>A | XP_011540288.1:p.Ala13Asp | |
| XM_011541987.1:c.-457C>A | XP_011540289.1:n.-457C>A | |
| XM_011541989.1:c.38C>A | XP_011540291.1:p.Ala13Asp | |
| XM_011541990.1:c.-898C>A | XP_011540292.1:n.-898C>A | |
| XR_946742.1:n.229C>A | ||
| XR_946743.1:n.229C>A | ||
| XR_946744.1:n.229C>A | ||
| XR_946745.1:n.232C>A | ||
| NM_001270461.2:c.38C>A | NP_001257390.1:p.Ala13Asp | |
| NM_001270462.2:c.38C>A | NP_001257391.1:p.Ala13Asp | |
| NM_001270463.2:c.38C>A | NP_001257392.1:p.Ala13Asp | |
| NM_001270464.2:c.38C>A | NP_001257393.1:p.Ala13Asp | |
| NM_001270465.2:c.38C>A | NP_001257394.1:p.Ala13Asp | |
| NM_001270466.2:c.38C>A | NP_001257395.1:p.Ala13Asp | |
| NM_001350619.1:c.38C>A | NP_001337548.1:p.Ala13Asp | |
| NM_001350620.1:c.38C>A | NP_001337549.1:p.Ala13Asp | |
| NM_001350621.1:c.-416C>A | NP_001337550.1:n.-416C>A | |
| NM_001363573.1:c.38C>A | NP_001350502.1:p.Ala13Asp | |
| NM_006279.4:c.38C>A | NP_006270.1:p.Ala13Asp | |
| NM_174963.4:c.38C>A | NP_777623.2:p.Ala13Asp | |
| NM_174964.3:c.38C>A | NP_777624.1:p.Ala13Asp | |
| NM_174965.3:c.38C>A | NP_777625.1:p.Ala13Asp | |
| NM_174966.3:c.38C>A | NP_777626.1:p.Ala13Asp | |
| NM_174967.3:c.38C>A | NP_777627.1:p.Ala13Asp | |
| NM_174968.4:c.38C>A | NP_777628.2:p.Ala13Asp | |
| NM_174969.3:c.38C>A | NP_777629.1:p.Ala13Asp | |
| NM_174970.3:c.38C>A | NP_777630.1:p.Ala13Asp | |
| NM_174971.4:c.38C>A | NP_777631.2:p.Ala13Asp | |
| NR_073016.2:n.265C>A | ||
| NR_073017.2:n.265C>A | ||
| NR_073018.2:n.265C>A | ||
| NR_073019.2:n.265C>A | ||
| NR_073020.2:n.265C>A | ||
| NR_073021.2:n.265C>A | ||
| NR_073023.2:n.265C>A | ||
| NR_146867.1:n.265C>A | ||
| XM_006710827.4:c.38C>A | XP_006710890.1:p.Ala13Asp | |
| XM_011541973.2:c.38C>A | XP_011540275.1:p.Ala13Asp | |
| XM_011541974.2:c.38C>A | XP_011540276.1:p.Ala13Asp | |
| XM_011541976.2:c.38C>A | XP_011540278.1:p.Ala13Asp | |
| XM_011541981.2:c.38C>A | XP_011540283.1:p.Ala13Asp | |
| XM_011541983.2:c.-554C>A | XP_011540285.1:n.-554C>A | |
| XM_011541984.2:c.38C>A | XP_011540286.1:p.Ala13Asp | |
| XM_011541985.2:c.38C>A | XP_011540287.1:p.Ala13Asp | |
| XM_011541986.3:c.38C>A | XP_011540288.1:p.Ala13Asp | |
| XM_011541987.2:c.-457C>A | XP_011540289.1:n.-457C>A | |
| XM_017002109.2:c.38C>A | XP_016857598.1:p.Ala13Asp | |
| XM_017002110.1:c.38C>A | XP_016857599.1:p.Ala13Asp | |
| XM_017002113.1:c.38C>A | XP_016857602.1:p.Ala13Asp | |
| XM_017002114.1:c.-680C>A | XP_016857603.1:n.-680C>A | |
| XM_017002115.1:c.-368C>A | XP_016857604.1:n.-368C>A | |
| XM_017002116.1:c.-505C>A | XP_016857605.1:n.-505C>A | |
| XM_017002120.1:c.-457C>A | XP_016857609.1:n.-457C>A | |
| XM_017002121.1:c.-409C>A | XP_016857610.1:n.-409C>A | |
| XR_001737368.1:n.231C>A | ||
| XR_946742.2:n.231C>A | ||
| XR_946743.2:n.231C>A | ||
| XR_946744.2:n.231C>A | ||
| XR_946745.2:n.231C>A | ||
| NM_001270459.2:c.38C>A | NP_001257388.1:p.Ala13Asp | |
| NM_001270460.2:c.38C>A | NP_001257389.1:p.Ala13Asp | |
| NM_001270461.3:c.38C>A | NP_001257390.1:p.Ala13Asp | |
| NM_001270462.3:c.38C>A | NP_001257391.1:p.Ala13Asp | |
| NM_001270463.3:c.38C>A | NP_001257392.1:p.Ala13Asp | |
| NM_001270464.3:c.38C>A | NP_001257393.1:p.Ala13Asp | |
| NM_001350619.2:c.38C>A | NP_001337548.1:p.Ala13Asp | |
| NM_001350620.2:c.38C>A | NP_001337549.1:p.Ala13Asp | |
| NM_001350621.2:c.-416C>A | NP_001337550.1:n.-416C>A | |
| NM_001363573.2:c.38C>A | NP_001350502.1:p.Ala13Asp | |
| NM_006279.5:c.38C>A MANE Select | NP_006270.1:p.Ala13Asp | |
| NM_174963.5:c.38C>A | NP_777623.2:p.Ala13Asp | |
| NM_174964.4:c.38C>A | NP_777624.1:p.Ala13Asp | |
| NM_174966.4:c.38C>A | NP_777626.1:p.Ala13Asp | |
| NM_174967.4:c.38C>A | NP_777627.1:p.Ala13Asp | |
| NM_174968.5:c.38C>A | NP_777628.2:p.Ala13Asp | |
| NM_174969.4:c.38C>A | NP_777629.1:p.Ala13Asp | |
| NM_174970.4:c.38C>A | NP_777630.1:p.Ala13Asp | |
| NM_174971.5:c.38C>A | NP_777631.2:p.Ala13Asp | |
| NR_073016.3:n.226C>A | ||
| NR_073017.3:n.226C>A | ||
| NR_073018.3:n.226C>A | ||
| NR_073019.3:n.226C>A | ||
| NR_073020.3:n.226C>A | ||
| NR_073021.3:n.226C>A | ||
| NR_073023.3:n.226C>A | ||
| NR_146867.2:n.226C>A | ||
| NM_001270465.3:c.38C>A | NP_001257394.1:p.Ala13Asp | |
| NM_001270466.3:c.38C>A | NP_001257395.1:p.Ala13Asp | |
| NM_174965.4:c.38C>A | NP_777625.1:p.Ala13Asp |