|
NM_006279.5:c.618C>T
MANE Select
|
NP_006270.1:p.Arg206=
|
|
ENST00000347631.8:c.618C>T
MANE Select
|
ENSP00000317192.6:p.Arg206=
|
|
NM_001270459.1:c.618C>T
|
NP_001257388.1:p.Arg206=
|
|
NM_001270459.2:c.618C>T
|
NP_001257388.1:p.Arg206=
|
|
NM_001270460.1:c.525C>T
|
NP_001257389.1:p.Arg175=
|
|
NM_001270460.2:c.525C>T
|
NP_001257389.1:p.Arg175=
|
|
NM_001270461.1:c.570C>T
|
NP_001257390.1:p.Arg190=
|
|
NM_001270461.2:c.570C>T
|
NP_001257390.1:p.Arg190=
|
|
NM_001270461.3:c.570C>T
|
NP_001257390.1:p.Arg190=
|
|
NM_001270462.1:c.477C>T
|
NP_001257391.1:p.Arg159=
|
|
NM_001270462.2:c.477C>T
|
NP_001257391.1:p.Arg159=
|
|
NM_001270462.3:c.477C>T
|
NP_001257391.1:p.Arg159=
|
|
NM_001270463.1:c.554+338C>T
|
NP_001257392.1:n.554+338C>T
|
|
NM_001270463.2:c.554+338C>T
|
NP_001257392.1:n.554+338C>T
|
|
NM_001270463.3:c.554+338C>T
|
NP_001257392.1:n.554+338C>T
|
|
NM_001270464.1:c.509+338C>T
|
NP_001257393.1:n.509+338C>T
|
|
NM_001270464.2:c.509+338C>T
|
NP_001257393.1:n.509+338C>T
|
|
NM_001270464.3:c.509+338C>T
|
NP_001257393.1:n.509+338C>T
|
|
NM_001270465.1:c.*22+312C>T
|
NP_001257394.1:n.*22+312C>T
|
|
NM_001270465.2:c.*22+312C>T
|
NP_001257394.1:n.*22+312C>T
|
|
NM_001270465.3:c.*22+312C>T
|
NP_001257394.1:n.*22+312C>T
|
|
NM_001270466.1:c.255-30531C>T
|
NP_001257395.1:n.255-30531C>T
|
|
NM_001270466.2:c.255-30531C>T
|
NP_001257395.1:n.255-30531C>T
|
|
NM_001270466.3:c.255-30531C>T
|
NP_001257395.1:n.255-30531C>T
|
|
NM_001350619.1:c.663C>T
|
NP_001337548.1:p.Arg221=
|
|
NM_001350619.2:c.663C>T
|
NP_001337548.1:p.Arg221=
|
|
NM_001350620.1:c.618C>T
|
NP_001337549.1:p.Arg206=
|
|
NM_001350620.2:c.618C>T
|
NP_001337549.1:p.Arg206=
|
|
NM_001350621.1:c.339C>T
|
NP_001337550.1:p.Arg113=
|
|
NM_001350621.2:c.339C>T
|
NP_001337550.1:p.Arg113=
|
|
NM_001363573.1:c.780C>T
|
NP_001350502.1:p.Arg260=
|
|
NM_001363573.2:c.780C>T
|
NP_001350502.1:p.Arg260=
|
|
NM_006279.3:c.618C>T
|
NP_006270.1:p.Arg206=
|
|
NM_006279.4:c.618C>T
|
NP_006270.1:p.Arg206=
|
|
NM_174963.3:c.825C>T
|
NP_777623.2:p.Arg275=
|
|
NM_174963.4:c.825C>T
|
NP_777623.2:p.Arg275=
|
|
NM_174963.5:c.825C>T
|
NP_777623.2:p.Arg275=
|
|
NM_174964.2:c.663C>T
|
NP_777624.1:p.Arg221=
|
|
NM_174964.3:c.663C>T
|
NP_777624.1:p.Arg221=
|
|
NM_174964.4:c.663C>T
|
NP_777624.1:p.Arg221=
|
|
NM_174965.2:c.442+5124C>T
|
NP_777625.1:n.442+5124C>T
|
|
NM_174965.3:c.442+5124C>T
|
NP_777625.1:n.442+5124C>T
|
|
NM_174965.4:c.442+5124C>T
|
NP_777625.1:n.442+5124C>T
|
|
NM_174966.2:c.618C>T
|
NP_777626.1:p.Arg206=
|
|
NM_174966.3:c.618C>T
|
NP_777626.1:p.Arg206=
|
|
NM_174966.4:c.618C>T
|
NP_777626.1:p.Arg206=
|
|
NM_174967.2:c.397+5124C>T
|
NP_777627.1:n.397+5124C>T
|
|
NM_174967.3:c.397+5124C>T
|
NP_777627.1:n.397+5124C>T
|
|
NM_174967.4:c.397+5124C>T
|
NP_777627.1:n.397+5124C>T
|
|
NM_174968.3:c.780C>T
|
NP_777628.2:p.Arg260=
|
|
NM_174968.4:c.780C>T
|
NP_777628.2:p.Arg260=
|
|
NM_174968.5:c.780C>T
|
NP_777628.2:p.Arg260=
|
|
NM_174969.2:c.570C>T
|
NP_777629.1:p.Arg190=
|
|
NM_174969.3:c.570C>T
|
NP_777629.1:p.Arg190=
|
|
NM_174969.4:c.570C>T
|
NP_777629.1:p.Arg190=
|
|
NM_174970.2:c.349+5124C>T
|
NP_777630.1:n.349+5124C>T
|
|
NM_174970.3:c.349+5124C>T
|
NP_777630.1:n.349+5124C>T
|
|
NM_174970.4:c.349+5124C>T
|
NP_777630.1:n.349+5124C>T
|
|
NM_174971.3:c.732C>T
|
NP_777631.2:p.Arg244=
|
|
NM_174971.4:c.732C>T
|
NP_777631.2:p.Arg244=
|
|
NM_174971.5:c.732C>T
|
NP_777631.2:p.Arg244=
|
|
NR_073016.1:n.841C>T
|
|
|
NR_073016.2:n.877C>T
|
|
|
NR_073016.3:n.838C>T
|
|
|
NR_073017.1:n.718C>T
|
|
|
NR_073017.2:n.754C>T
|
|
|
NR_073017.3:n.715C>T
|
|
|
NR_073018.1:n.982C>T
|
|
|
NR_073018.2:n.1018C>T
|
|
|
NR_073018.3:n.979C>T
|
|
|
NR_073019.1:n.657C>T
|
|
|
NR_073019.2:n.693C>T
|
|
|
NR_073019.3:n.654C>T
|
|
|
NR_073020.1:n.700+338C>T
|
|
|
NR_073020.2:n.736+338C>T
|
|
|
NR_073020.3:n.697+338C>T
|
|
|
NR_073021.1:n.922+338C>T
|
|
|
NR_073021.2:n.958+338C>T
|
|
|
NR_073021.3:n.919+338C>T
|
|
|
NR_073023.1:n.588+5124C>T
|
|
|
NR_073023.2:n.624+5124C>T
|
|
|
NR_073023.3:n.585+5124C>T
|
|
|
NR_146867.1:n.877C>T
|
|
|
NR_146867.2:n.838C>T
|
|
|
ENST00000262915.7:c.825C>T
|
ENSP00000262915.3:p.Arg275=
|
|
ENST00000262915.8:c.825C>T
|
ENSP00000262915.3:p.Arg275=
|
|
ENST00000330208.6:c.255-30531C>T
|
ENSP00000333494.3:n.255-30531C>T
|
|
ENST00000332628.10:c.525C>T
|
ENSP00000329755.6:p.Arg175=
|
|
ENST00000332628.11:c.404C>T
|
|
|
ENST00000335430.10:c.*22+312C>T
|
ENSP00000335633.7:n.*22+312C>T
|
|
ENST00000347631.6:c.663C>T
|
ENSP00000317192.4:p.Arg221=
|
|
ENST00000351035.7:c.732C>T
|
ENSP00000316999.5:p.Arg244=
|
|
ENST00000351035.8:c.780C>T
|
ENSP00000316999.6:p.Arg260=
|
|
ENST00000353126.7:c.618C>T
|
ENSP00000330463.3:p.Arg206=
|
|
ENST00000353126.8:c.618C>T
|
ENSP00000330463.3:p.Arg206=
|
|
ENST00000361392.8:c.618C>T
|
ENSP00000355341.4:p.Arg206=
|
|
ENST00000361392.9:c.663C>T
|
ENSP00000355341.5:p.Arg221=
|
|
ENST00000361400.8:c.570C>T
|
ENSP00000354748.4:p.Arg190=
|
|
ENST00000361400.9:c.570C>T
|
ENSP00000354748.4:p.Arg190=
|
|
ENST00000361746.8:c.825C>T
|
ENSP00000354657.4:p.Arg275=
|
|
ENST00000361746.9:c.711C>T
|
ENSP00000354657.5:p.Arg237=
|
|
ENST00000361812.8:c.442+5124C>T
|
ENSP00000355201.4:n.442+5124C>T
|
|
ENST00000361812.9:c.442+5124C>T
|
ENSP00000355201.4:n.442+5124C>T
|
|
ENST00000372362.6:c.397+5124C>T
|
ENSP00000361437.2:n.397+5124C>T
|
|
ENST00000372365.5:c.583+312C>T
|
ENSP00000361440.1:n.583+312C>T
|
|
ENST00000372366.5:c.580+312C>T
|
ENSP00000361441.1:n.580+312C>T
|
|
ENST00000372366.6:c.580+312C>T
|
ENSP00000361441.1:n.580+312C>T
|
|
ENST00000372367.5:c.554+338C>T
|
ENSP00000361442.1:n.554+338C>T
|
|
ENST00000372368.6:c.780C>T
|
ENSP00000361443.2:p.Arg260=
|
|
ENST00000372368.7:c.780C>T
|
ENSP00000361443.3:p.Arg260=
|
|
ENST00000372369.5:c.618C>T
|
ENSP00000361444.1:p.Arg206=
|
|
ENST00000372372.6:c.732C>T
|
ENSP00000361447.2:p.Arg244=
|
|
ENST00000372372.7:c.732C>T
|
ENSP00000361447.2:p.Arg244=
|
|
ENST00000372374.6:c.525C>T
|
ENSP00000361449.2:p.Arg175=
|
|
ENST00000372374.7:c.525C>T
|
ENSP00000361449.2:p.Arg175=
|
|
ENST00000461375.1:n.494C>T
|
|
|
ENST00000461375.2:n.495C>T
|
|
|
ENST00000469715.5:c.650C>T
|
ENSP00000431700.1:n.650C>T
|
|
ENST00000469715.6:c.466C>T
|
ENSP00000431700.2:n.466C>T
|
|
ENST00000489897.5:c.*365+338C>T
|
ENSP00000437206.1:n.*365+338C>T
|
|
ENST00000489897.6:c.*365+338C>T
|
ENSP00000437206.1:n.*365+338C>T
|
|
ENST00000490502.1:c.14C>T
|
|
|
ENST00000490541.5:c.466C>T
|
ENSP00000435018.1:n.466C>T
|
|
ENST00000490541.6:c.527C>T
|
ENSP00000435018.2:n.527C>T
|
|
ENST00000528371.5:c.509+338C>T
|
ENSP00000434876.1:n.509+338C>T
|
|
ENST00000530154.5:c.*675C>T
|
ENSP00000434686.1:n.*675C>T
|
|
ENST00000530581.5:c.509+338C>T
|
ENSP00000437293.1:n.509+338C>T
|
|
ENST00000531451.5:c.349+5124C>T
|
ENSP00000435603.1:n.349+5124C>T
|
|
ENST00000531816.1:c.255-30531C>T
|
ENSP00000434378.1:n.255-30531C>T
|
|
ENST00000531993.5:c.570C>T
|
ENSP00000432682.1:p.Arg190=
|
|
ENST00000531993.6:c.477C>T
|
ENSP00000432682.2:p.Arg159=
|
|
ENST00000533212.5:c.397+5124C>T
|
ENSP00000435621.1:n.397+5124C>T
|
|
ENST00000533933.5:c.618C>T
|
ENSP00000432965.1:p.Arg206=
|
|
ENST00000533933.6:c.561C>T
|
ENSP00000432965.2:p.Arg187=
|
|
ENST00000533997.5:c.791C>T
|
ENSP00000432071.1:n.791C>T
|
|
ENST00000533997.6:c.*443C>T
|
ENSP00000432071.1:n.*443C>T
|
|
ENST00000545417.5:c.442+5124C>T
|
ENSP00000439634.1:n.442+5124C>T
|
|
ENST00000642194.1:c.442+5124C>T
|
ENSP00000493708.1:n.442+5124C>T
|
|
ENST00000642331.1:c.663C>T
|
ENSP00000493823.1:p.Arg221=
|
|
ENST00000642504.1:c.*443C>T
|
ENSP00000494857.1:n.*443C>T
|
|
ENST00000642780.1:c.442C>T
|
|
|
ENST00000642934.1:c.570C>T
|
ENSP00000494146.1:p.Arg190=
|
|
ENST00000642949.1:c.*80C>T
|
ENSP00000495709.1:n.*80C>T
|
|
ENST00000643252.1:c.618C>T
|
ENSP00000495333.1:p.Arg206=
|
|
ENST00000643283.1:c.*80C>T
|
ENSP00000494746.1:n.*80C>T
|
|
ENST00000643597.1:c.*62C>T
|
ENSP00000495977.1:n.*62C>T
|
|
ENST00000643813.1:c.663C>T
|
ENSP00000496646.1:n.663C>T
|
|
ENST00000643989.1:c.100C>T
|
|
|
ENST00000644016.1:n.588C>T
|
|
|
ENST00000644195.1:c.618C>T
|
ENSP00000494201.1:p.Arg206=
|
|
ENST00000644287.1:c.512C>T
|
|
|
ENST00000644378.1:n.462C>T
|
|
|
ENST00000644645.1:c.404C>T
|
ENSP00000495647.1:n.404C>T
|
|
ENST00000644922.1:c.585C>T
|
ENSP00000496289.1:p.Arg195=
|
|
ENST00000645012.1:n.266C>T
|
|
|
ENST00000645034.1:c.618C>T
|
ENSP00000496350.1:p.Arg206=
|
|
ENST00000645057.1:c.*1940C>T
|
ENSP00000494063.1:n.*1940C>T
|
|
ENST00000645117.1:c.519+312C>T
|
|
|
ENST00000645142.1:c.*80C>T
|
ENSP00000496550.1:n.*80C>T
|
|
ENST00000645161.1:c.314C>T
|
|
|
ENST00000645165.1:c.*426C>T
|
ENSP00000493660.1:n.*426C>T
|
|
ENST00000645394.1:c.*80C>T
|
ENSP00000495299.1:n.*80C>T
|
|
ENST00000645640.1:c.*426C>T
|
ENSP00000494852.1:n.*426C>T
|
|
ENST00000645644.1:n.580C>T
|
|
|
ENST00000645705.1:c.*82C>T
|
ENSP00000496492.1:n.*82C>T
|
|
ENST00000646027.1:c.570C>T
|
ENSP00000494396.1:p.Arg190=
|
|
ENST00000646032.1:c.358C>T
|
|
|
ENST00000646069.1:c.525C>T
|
ENSP00000496585.1:p.Arg175=
|
|
ENST00000646686.1:c.570C>T
|
ENSP00000495683.1:p.Arg190=
|
|
ENST00000646971.1:c.618C>T
|
ENSP00000495887.1:p.Arg206=
|
|
ENST00000647128.1:c.*111-30531C>T
|
ENSP00000494374.1:n.*111-30531C>T
|
|
ENST00000647134.1:c.*443C>T
|
ENSP00000495797.1:n.*443C>T
|
|
ENST00000647148.1:c.618C>T
|
ENSP00000495939.1:p.Arg206=
|
|
ENST00000647237.1:c.780C>T
|
ENSP00000495624.1:p.Arg260=
|
|
ENST00000647299.1:n.543C>T
|
|
|
ENST00000647482.1:c.*212C>T
|
ENSP00000495567.1:n.*212C>T
|
|
ENST00000647503.1:c.439+338C>T
|
|
|
XM_006710825.2:c.618C>T
|
XP_006710888.1:p.Arg206=
|
|
XM_006710826.2:c.615C>T
|
XP_006710889.1:p.Arg205=
|
|
XM_006710827.2:c.570C>T
|
XP_006710890.1:p.Arg190=
|
|
XM_006710827.4:c.570C>T
|
XP_006710890.1:p.Arg190=
|
|
XM_006710828.2:c.339C>T
|
XP_006710891.1:p.Arg113=
|
|
XM_006710829.2:c.297C>T
|
XP_006710892.1:p.Arg99=
|
|
XM_011541972.1:c.825C>T
|
XP_011540274.1:p.Arg275=
|
|
XM_011541973.1:c.825C>T
|
XP_011540275.1:p.Arg275=
|
|
XM_011541973.2:c.825C>T
|
XP_011540275.1:p.Arg275=
|
|
XM_011541974.1:c.780C>T
|
XP_011540276.1:p.Arg260=
|
|
XM_011541974.2:c.780C>T
|
XP_011540276.1:p.Arg260=
|
|
XM_011541975.1:c.777C>T
|
XP_011540277.1:p.Arg259=
|
|
XM_011541976.1:c.732C>T
|
XP_011540278.1:p.Arg244=
|
|
XM_011541976.2:c.732C>T
|
XP_011540278.1:p.Arg244=
|
|
XM_011541977.1:c.663C>T
|
XP_011540279.1:p.Arg221=
|
|
XM_011541978.1:c.657C>T
|
XP_011540280.1:p.Arg219=
|
|
XM_011541979.1:c.495C>T
|
XP_011540281.1:p.Arg165=
|
|
XM_011541980.1:c.453C>T
|
XP_011540282.1:p.Arg151=
|
|
XM_011541980.3:c.453C>T
|
XP_011540282.1:p.Arg151=
|
|
XM_011541981.1:c.825C>T
|
XP_011540283.1:p.Arg275=
|
|
XM_011541981.2:c.825C>T
|
XP_011540283.1:p.Arg275=
|
|
XM_011541982.1:c.339C>T
|
XP_011540284.1:p.Arg113=
|
|
XM_011541983.1:c.336C>T
|
XP_011540285.1:p.Arg112=
|
|
XM_011541983.2:c.336C>T
|
XP_011540285.1:p.Arg112=
|
|
XM_011541984.1:c.825C>T
|
XP_011540286.1:p.Arg275=
|
|
XM_011541984.2:c.825C>T
|
XP_011540286.1:p.Arg275=
|
|
XM_011541985.1:c.825C>T
|
XP_011540287.1:p.Arg275=
|
|
XM_011541985.2:c.825C>T
|
XP_011540287.1:p.Arg275=
|
|
XM_011541986.1:c.825C>T
|
XP_011540288.1:p.Arg275=
|
|
XM_011541986.3:c.825C>T
|
XP_011540288.1:p.Arg275=
|
|
XM_011541987.1:c.297C>T
|
XP_011540289.1:p.Arg99=
|
|
XM_011541987.2:c.297C>T
|
XP_011540289.1:p.Arg99=
|
|
XM_011541988.1:c.297C>T
|
XP_011540290.1:p.Arg99=
|
|
XM_011541988.2:c.297C>T
|
XP_011540290.1:p.Arg99=
|
|
XM_011541989.1:c.*22+312C>T
|
XP_011540291.1:n.*22+312C>T
|
|
XM_011541990.1:c.-22C>T
|
XP_011540292.1:n.-22C>T
|
|
XM_017002109.2:c.825C>T
|
XP_016857598.1:p.Arg275=
|
|
XM_017002110.1:c.825C>T
|
XP_016857599.1:p.Arg275=
|
|
XM_017002113.1:c.618C>T
|
XP_016857602.1:p.Arg206=
|
|
XM_017002114.1:c.339C>T
|
XP_016857603.1:p.Arg113=
|
|
XM_017002115.1:c.339C>T
|
XP_016857604.1:p.Arg113=
|
|
XM_017002116.1:c.336C>T
|
XP_016857605.1:p.Arg112=
|
|
XM_017002120.1:c.297C>T
|
XP_016857609.1:p.Arg99=
|
|
XM_017002121.1:c.297C>T
|
XP_016857610.1:p.Arg99=
|
|
XR_001737368.1:n.1018C>T
|
|
|
XR_946742.1:n.1016C>T
|
|
|
XR_946742.2:n.1018C>T
|
|
|
XR_946743.1:n.1016C>T
|
|
|
XR_946743.2:n.1018C>T
|
|
|
XR_946744.1:n.1016C>T
|
|
|
XR_946744.2:n.1018C>T
|
|
|
XR_946745.1:n.1051C>T
|
|
|
XR_946745.2:n.1050C>T
|
|
