Revel Score:
ENST00000335430
0.125
ENST00000490502
0.125
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00059328 (SAS)
Genomes Max Group AF
0.0000729 (SAS)
Exomes Max Group AF
0.00060602 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43920499C>T , CM000663.2:g.43920499C>T | GRCh38 |
| NC_000001.10:g.44386171C>T , CM000663.1:g.44386171C>T | GRCh37 |
| NC_000001.9:g.44158758C>T | NCBI36 |
| NG_028196.1:g.217954C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262915.8:c.1047C>T | ENSP00000262915.3:p.Ala349= | |
| ENST00000332628.11:c.626C>T | ||
| ENST00000347631.8:c.840C>T MANE Select | ENSP00000317192.6:p.Ala280= | |
| ENST00000351035.8:c.1002C>T | ENSP00000316999.6:p.Ala334= | |
| ENST00000353126.8:c.745-9633C>T | ENSP00000330463.3:n.745-9633C>T | |
| ENST00000361392.9:c.885C>T | ENSP00000355341.5:p.Ala295= | |
| ENST00000361400.9:c.792C>T | ENSP00000354748.4:p.Ala264= | |
| ENST00000361746.9:c.933C>T | ENSP00000354657.5:p.Ala311= | |
| ENST00000361812.9:c.443-9633C>T | ENSP00000355201.4:n.443-9633C>T | |
| ENST00000372366.6:c.581-9633C>T | ENSP00000361441.1:n.581-9633C>T | |
| ENST00000372368.7:c.1002C>T | ENSP00000361443.3:p.Ala334= | |
| ENST00000372372.7:c.954C>T | ENSP00000361447.2:p.Ala318= | |
| ENST00000372374.7:c.747C>T | ENSP00000361449.2:p.Ala249= | |
| ENST00000461375.2:n.802C>T | ||
| ENST00000469715.6:c.688C>T | ENSP00000431700.2:n.688C>T | |
| ENST00000489897.6:c.*366-9633C>T | ENSP00000437206.1:n.*366-9633C>T | |
| ENST00000490541.6:c.749C>T | ENSP00000435018.2:n.749C>T | |
| ENST00000495482.2:n.1387C>T | ||
| ENST00000531993.6:c.604-9633C>T | ENSP00000432682.2:n.604-9633C>T | |
| ENST00000533933.6:c.783C>T | ENSP00000432965.2:p.Ala261= | |
| ENST00000533997.6:c.*570-9633C>T | ENSP00000432071.1:n.*570-9633C>T | |
| ENST00000642194.1:c.*37C>T | ENSP00000493708.1:n.*37C>T | |
| ENST00000642331.1:c.885C>T | ENSP00000493823.1:p.Ala295= | |
| ENST00000642504.1:c.*665C>T | ENSP00000494857.1:n.*665C>T | |
| ENST00000642780.1:c.664C>T | ||
| ENST00000642934.1:c.697-9633C>T | ENSP00000494146.1:n.697-9633C>T | |
| ENST00000642949.1:c.*302C>T | ENSP00000495709.1:n.*302C>T | |
| ENST00000643252.1:c.840C>T | ENSP00000495333.1:p.Ala280= | |
| ENST00000643283.1:c.*302C>T | ENSP00000494746.1:n.*302C>T | |
| ENST00000643597.1:c.*189-9633C>T | ENSP00000495977.1:n.*189-9633C>T | |
| ENST00000643813.1:c.885C>T | ENSP00000496646.1:n.885C>T | |
| ENST00000644016.1:n.810C>T | ||
| ENST00000644195.1:c.840C>T | ENSP00000494201.1:p.Ala280= | |
| ENST00000644287.1:c.734C>T | ||
| ENST00000644378.1:n.589-9633C>T | ||
| ENST00000644645.1:c.531-9633C>T | ENSP00000495647.1:n.531-9633C>T | |
| ENST00000644922.1:c.712-9633C>T | ENSP00000496289.1:n.712-9633C>T | |
| ENST00000645012.1:n.488C>T | ||
| ENST00000645034.1:c.840C>T | ENSP00000496350.1:p.Ala280= | |
| ENST00000645057.1:c.*2162C>T | ENSP00000494063.1:n.*2162C>T | |
| ENST00000645117.1:c.520-9633C>T | ||
| ENST00000645142.1:c.*302C>T | ENSP00000496550.1:n.*302C>T | |
| ENST00000645165.1:c.*648C>T | ENSP00000493660.1:n.*648C>T | |
| ENST00000645394.1:c.*302C>T | ENSP00000495299.1:n.*302C>T | |
| ENST00000645640.1:c.*648C>T | ENSP00000494852.1:n.*648C>T | |
| ENST00000645644.1:n.802C>T | ||
| ENST00000645670.1:n.1398C>T | ||
| ENST00000645705.1:c.*304C>T | ENSP00000496492.1:n.*304C>T | |
| ENST00000646027.1:c.815C>T | ENSP00000494396.1:p.Pro272Leu | |
| ENST00000646069.1:c.747C>T | ENSP00000496585.1:p.Ala249= | |
| ENST00000646686.1:c.792C>T | ENSP00000495683.1:p.Ala264= | |
| ENST00000646971.1:c.840C>T | ENSP00000495887.1:p.Ala280= | |
| ENST00000647128.1:c.*111-9633C>T | ENSP00000494374.1:n.*111-9633C>T | |
| ENST00000647134.1:c.*665C>T | ENSP00000495797.1:n.*665C>T | |
| ENST00000647148.1:c.840C>T | ENSP00000495939.1:p.Ala280= | |
| ENST00000647237.1:c.907-9633C>T | ENSP00000495624.1:n.907-9633C>T | |
| ENST00000647482.1:c.*434C>T | ENSP00000495567.1:n.*434C>T | |
| ENST00000647503.1:c.440-9633C>T | ||
| ENST00000262915.7:c.1047C>T | ENSP00000262915.3:p.Ala349= | |
| ENST00000330208.6:c.255-9633C>T | ENSP00000333494.3:n.255-9633C>T | |
| ENST00000332628.10:c.747C>T | ENSP00000329755.6:p.Ala249= | |
| ENST00000335430.10:c.*23-9633C>T | ENSP00000335633.7:n.*23-9633C>T | |
| ENST00000347631.6:c.885C>T | ENSP00000317192.4:p.Ala295= | |
| ENST00000351035.7:c.954C>T | ENSP00000316999.5:p.Ala318= | |
| ENST00000353126.7:c.745-9633C>T | ENSP00000330463.3:n.745-9633C>T | |
| ENST00000361392.8:c.840C>T | ENSP00000355341.4:p.Ala280= | |
| ENST00000361400.8:c.792C>T | ENSP00000354748.4:p.Ala264= | |
| ENST00000361746.8:c.1047C>T | ENSP00000354657.4:p.Ala349= | |
| ENST00000361812.8:c.443-9633C>T | ENSP00000355201.4:n.443-9633C>T | |
| ENST00000372362.6:c.398-9633C>T | ENSP00000361437.2:n.398-9633C>T | |
| ENST00000372365.5:c.584-9633C>T | ENSP00000361440.1:n.584-9633C>T | |
| ENST00000372366.5:c.581-9633C>T | ENSP00000361441.1:n.581-9633C>T | |
| ENST00000372367.5:c.555-9633C>T | ENSP00000361442.1:n.555-9633C>T | |
| ENST00000372368.6:c.1002C>T | ENSP00000361443.2:p.Ala334= | |
| ENST00000372369.5:c.750C>T | ENSP00000361444.1:p.Ala250= | |
| ENST00000372372.6:c.954C>T | ENSP00000361447.2:p.Ala318= | |
| ENST00000372374.6:c.747C>T | ENSP00000361449.2:p.Ala249= | |
| ENST00000461375.1:n.801C>T | ||
| ENST00000469715.5:c.872C>T | ENSP00000431700.1:n.872C>T | |
| ENST00000489897.5:c.*366-9633C>T | ENSP00000437206.1:n.*366-9633C>T | |
| ENST00000490502.1:c.236C>T | ||
| ENST00000490541.5:c.688C>T | ENSP00000435018.1:n.688C>T | |
| ENST00000495482.1:n.377C>T | ||
| ENST00000528371.5:c.510-9633C>T | ENSP00000434876.1:n.510-9633C>T | |
| ENST00000530581.5:c.605C>T | ENSP00000437293.1:p.Pro202Leu | |
| ENST00000531451.5:c.350-9633C>T | ENSP00000435603.1:n.350-9633C>T | |
| ENST00000531816.1:c.255-9633C>T | ENSP00000434378.1:n.255-9633C>T | |
| ENST00000531993.5:c.697-9633C>T | ENSP00000432682.1:n.697-9633C>T | |
| ENST00000533212.5:c.493C>T | ENSP00000435621.1:n.493C>T | |
| ENST00000533933.5:c.745-9633C>T | ENSP00000432965.1:n.745-9633C>T | |
| ENST00000533997.5:c.918-9633C>T | ENSP00000432071.1:n.918-9633C>T | |
| ENST00000545417.5:c.443-9633C>T | ENSP00000439634.1:n.443-9633C>T | |
| NM_001270459.1:c.750C>T | NP_001257388.1:p.Ala250= | |
| NM_001270460.1:c.747C>T | NP_001257389.1:p.Ala249= | |
| NM_001270461.1:c.697-9633C>T | NP_001257390.1:n.697-9633C>T | |
| NM_001270462.1:c.604-9633C>T | NP_001257391.1:n.604-9633C>T | |
| NM_001270463.1:c.555-9633C>T | NP_001257392.1:n.555-9633C>T | |
| NM_001270464.1:c.510-9633C>T | NP_001257393.1:n.510-9633C>T | |
| NM_001270465.1:c.*23-9633C>T | NP_001257394.1:n.*23-9633C>T | |
| NM_001270466.1:c.255-9633C>T | NP_001257395.1:n.255-9633C>T | |
| NM_006279.3:c.840C>T | NP_006270.1:p.Ala280= | |
| NM_174963.3:c.1047C>T | NP_777623.2:p.Ala349= | |
| NM_174964.2:c.885C>T | NP_777624.1:p.Ala295= | |
| NM_174965.2:c.443-9633C>T | NP_777625.1:n.443-9633C>T | |
| NM_174966.2:c.745-9633C>T | NP_777626.1:n.745-9633C>T | |
| NM_174967.2:c.398-9633C>T | NP_777627.1:n.398-9633C>T | |
| NM_174968.3:c.1002C>T | NP_777628.2:p.Ala334= | |
| NM_174969.2:c.792C>T | NP_777629.1:p.Ala264= | |
| NM_174970.2:c.350-9633C>T | NP_777630.1:n.350-9633C>T | |
| NM_174971.3:c.954C>T | NP_777631.2:p.Ala318= | |
| NR_073016.1:n.1063C>T | ||
| NR_073017.1:n.940C>T | ||
| NR_073018.1:n.1109-9633C>T | ||
| NR_073019.1:n.879C>T | ||
| NR_073020.1:n.796C>T | ||
| NR_073021.1:n.923-9633C>T | ||
| NR_073023.1:n.684C>T | ||
| XM_006710825.2:c.840C>T | XP_006710888.1:p.Ala280= | |
| XM_006710826.2:c.837C>T | XP_006710889.1:p.Ala279= | |
| XM_006710827.2:c.792C>T | XP_006710890.1:p.Ala264= | |
| XM_006710828.2:c.561C>T | XP_006710891.1:p.Ala187= | |
| XM_006710829.2:c.519C>T | XP_006710892.1:p.Ala173= | |
| XM_011541972.1:c.1047C>T | XP_011540274.1:p.Ala349= | |
| XM_011541973.1:c.1047C>T | XP_011540275.1:p.Ala349= | |
| XM_011541974.1:c.1002C>T | XP_011540276.1:p.Ala334= | |
| XM_011541975.1:c.999C>T | XP_011540277.1:p.Ala333= | |
| XM_011541976.1:c.954C>T | XP_011540278.1:p.Ala318= | |
| XM_011541977.1:c.885C>T | XP_011540279.1:p.Ala295= | |
| XM_011541978.1:c.879C>T | XP_011540280.1:p.Ala293= | |
| XM_011541979.1:c.717C>T | XP_011540281.1:p.Ala239= | |
| XM_011541980.1:c.675C>T | XP_011540282.1:p.Ala225= | |
| XM_011541981.1:c.952-9633C>T | XP_011540283.1:n.952-9633C>T | |
| XM_011541982.1:c.561C>T | XP_011540284.1:p.Ala187= | |
| XM_011541983.1:c.558C>T | XP_011540285.1:p.Ala186= | |
| XM_011541987.1:c.519C>T | XP_011540289.1:p.Ala173= | |
| XM_011541988.1:c.519C>T | XP_011540290.1:p.Ala173= | |
| XM_011541989.1:c.*23-9633C>T | XP_011540291.1:n.*23-9633C>T | |
| XM_011541990.1:c.201C>T | XP_011540292.1:p.Ala67= | |
| XR_946745.1:n.1273C>T | ||
| NM_001270461.2:c.697-9633C>T | NP_001257390.1:n.697-9633C>T | |
| NM_001270462.2:c.604-9633C>T | NP_001257391.1:n.604-9633C>T | |
| NM_001270463.2:c.555-9633C>T | NP_001257392.1:n.555-9633C>T | |
| NM_001270464.2:c.510-9633C>T | NP_001257393.1:n.510-9633C>T | |
| NM_001270465.2:c.*23-9633C>T | NP_001257394.1:n.*23-9633C>T | |
| NM_001270466.2:c.255-9633C>T | NP_001257395.1:n.255-9633C>T | |
| NM_001350619.1:c.885C>T | NP_001337548.1:p.Ala295= | |
| NM_001350620.1:c.840C>T | NP_001337549.1:p.Ala280= | |
| NM_001350621.1:c.561C>T | NP_001337550.1:p.Ala187= | |
| NM_001363573.1:c.907-9633C>T | NP_001350502.1:n.907-9633C>T | |
| NM_006279.4:c.840C>T | NP_006270.1:p.Ala280= | |
| NM_174963.4:c.1047C>T | NP_777623.2:p.Ala349= | |
| NM_174964.3:c.885C>T | NP_777624.1:p.Ala295= | |
| NM_174965.3:c.443-9633C>T | NP_777625.1:n.443-9633C>T | |
| NM_174966.3:c.745-9633C>T | NP_777626.1:n.745-9633C>T | |
| NM_174967.3:c.398-9633C>T | NP_777627.1:n.398-9633C>T | |
| NM_174968.4:c.1002C>T | NP_777628.2:p.Ala334= | |
| NM_174969.3:c.792C>T | NP_777629.1:p.Ala264= | |
| NM_174970.3:c.350-9633C>T | NP_777630.1:n.350-9633C>T | |
| NM_174971.4:c.954C>T | NP_777631.2:p.Ala318= | |
| NR_073016.2:n.1099C>T | ||
| NR_073017.2:n.976C>T | ||
| NR_073018.2:n.1145-9633C>T | ||
| NR_073019.2:n.915C>T | ||
| NR_073020.2:n.832C>T | ||
| NR_073021.2:n.959-9633C>T | ||
| NR_073023.2:n.720C>T | ||
| NR_146867.1:n.1099C>T | ||
| XM_006710827.4:c.792C>T | XP_006710890.1:p.Ala264= | |
| XM_011541973.2:c.1047C>T | XP_011540275.1:p.Ala349= | |
| XM_011541974.2:c.1002C>T | XP_011540276.1:p.Ala334= | |
| XM_011541976.2:c.954C>T | XP_011540278.1:p.Ala318= | |
| XM_011541980.3:c.675C>T | XP_011540282.1:p.Ala225= | |
| XM_011541981.2:c.952-9633C>T | XP_011540283.1:n.952-9633C>T | |
| XM_011541983.2:c.558C>T | XP_011540285.1:p.Ala186= | |
| XM_011541987.2:c.519C>T | XP_011540289.1:p.Ala173= | |
| XM_011541988.2:c.519C>T | XP_011540290.1:p.Ala173= | |
| XM_017002109.2:c.1047C>T | XP_016857598.1:p.Ala349= | |
| XM_017002113.1:c.840C>T | XP_016857602.1:p.Ala280= | |
| XM_017002114.1:c.561C>T | XP_016857603.1:p.Ala187= | |
| XM_017002115.1:c.561C>T | XP_016857604.1:p.Ala187= | |
| XM_017002116.1:c.558C>T | XP_016857605.1:p.Ala186= | |
| XM_017002120.1:c.519C>T | XP_016857609.1:p.Ala173= | |
| XM_017002121.1:c.519C>T | XP_016857610.1:p.Ala173= | |
| XR_946745.2:n.1272C>T | ||
| NM_001270459.2:c.750C>T | NP_001257388.1:p.Ala250= | |
| NM_001270460.2:c.747C>T | NP_001257389.1:p.Ala249= | |
| NM_001270461.3:c.697-9633C>T | NP_001257390.1:n.697-9633C>T | |
| NM_001270462.3:c.604-9633C>T | NP_001257391.1:n.604-9633C>T | |
| NM_001270463.3:c.555-9633C>T | NP_001257392.1:n.555-9633C>T | |
| NM_001270464.3:c.510-9633C>T | NP_001257393.1:n.510-9633C>T | |
| NM_001350619.2:c.885C>T | NP_001337548.1:p.Ala295= | |
| NM_001350620.2:c.840C>T | NP_001337549.1:p.Ala280= | |
| NM_001350621.2:c.561C>T | NP_001337550.1:p.Ala187= | |
| NM_001363573.2:c.907-9633C>T | NP_001350502.1:n.907-9633C>T | |
| NM_006279.5:c.840C>T MANE Select | NP_006270.1:p.Ala280= | |
| NM_174963.5:c.1047C>T | NP_777623.2:p.Ala349= | |
| NM_174964.4:c.885C>T | NP_777624.1:p.Ala295= | |
| NM_174966.4:c.745-9633C>T | NP_777626.1:n.745-9633C>T | |
| NM_174967.4:c.398-9633C>T | NP_777627.1:n.398-9633C>T | |
| NM_174968.5:c.1002C>T | NP_777628.2:p.Ala334= | |
| NM_174969.4:c.792C>T | NP_777629.1:p.Ala264= | |
| NM_174970.4:c.350-9633C>T | NP_777630.1:n.350-9633C>T | |
| NM_174971.5:c.954C>T | NP_777631.2:p.Ala318= | |
| NR_073016.3:n.1060C>T | ||
| NR_073017.3:n.937C>T | ||
| NR_073018.3:n.1106-9633C>T | ||
| NR_073019.3:n.876C>T | ||
| NR_073020.3:n.793C>T | ||
| NR_073021.3:n.920-9633C>T | ||
| NR_073023.3:n.681C>T | ||
| NR_146867.2:n.1060C>T | ||
| NM_001270465.3:c.*23-9633C>T | NP_001257394.1:n.*23-9633C>T | |
| NM_001270466.3:c.255-9633C>T | NP_001257395.1:n.255-9633C>T | |
| NM_174965.4:c.443-9633C>T | NP_777625.1:n.443-9633C>T |