|
ENST00000354452.8:c.1638G>T
MANE Select
|
ENSP00000346440.3:p.Arg546Ser
|
|
|
ENST00000635822.2:c.1529+1897G>T
|
ENSP00000490451.1:n.1529+1897G>T
|
|
|
ENST00000635990.2:n.1318G>T
|
|
|
|
ENST00000636400.2:c.1566G>T
|
ENSP00000490006.1:p.Arg522Ser
|
|
|
ENST00000636751.2:c.*1346G>T
|
ENSP00000489783.1:n.*1346G>T
|
|
|
ENST00000636822.2:c.1248G>T
|
ENSP00000490883.1:p.Arg416Ser
|
|
|
ENST00000637115.2:c.*1527+1G>T
|
ENSP00000490234.1:n.*1527+1G>T
|
|
|
ENST00000637169.2:c.990G>T
|
ENSP00000490832.1:p.Arg330Ser
|
|
|
ENST00000637239.2:n.1704+1G>T
|
|
|
|
ENST00000637250.2:n.1332G>T
|
|
|
|
ENST00000637923.2:c.1236G>T
|
|
|
|
ENST00000638154.3:c.1665G>T
|
ENSP00000490625.2:p.Arg555Ser
|
|
|
ENST00000643689.1:c.1248G>T
|
ENSP00000494380.1:p.Arg416Ser
|
|
|
ENST00000674764.1:c.*1249G>T
|
ENSP00000502213.1:n.*1249G>T
|
|
|
ENST00000675707.1:c.1248G>T
|
ENSP00000501758.1:p.Arg416Ser
|
|
|
ENST00000354452.7:c.1638G>T
|
ENSP00000346440.3:p.Arg546Ser
|
|
|
ENST00000356073.8:c.1637+1G>T
|
ENSP00000348374.4:n.1637+1G>T
|
|
|
ENST00000398339.5:c.1944G>T
|
ENSP00000381382.1:p.Arg648Ser
|
|
|
ENST00000457482.7:c.1158G>T
|
ENSP00000409447.2:p.Arg386Ser
|
|
|
ENST00000537578.5:c.1566G>T
|
ENSP00000440731.1:p.Arg522Ser
|
|
|
ENST00000537856.7:c.1247+1G>T
|
ENSP00000439827.2:n.1247+1G>T
|
|
|
ENST00000540999.5:c.1565+1G>T
|
ENSP00000445202.1:n.1565+1G>T
|
|
|
ENST00000543082.5:c.1511+1G>T
|
ENSP00000439656.1:n.1511+1G>T
|
|
|
ENST00000544241.6:c.1425G>T
|
ENSP00000441562.2:p.Arg475Ser
|
|
|
ENST00000561831.7:c.1157+1G>T
|
ENSP00000457765.1:n.1157+1G>T
|
|
|
ENST00000561992.5:c.1247+1G>T
|
ENSP00000455179.1:n.1247+1G>T
|
|
|
ENST00000562680.5:n.1729G>T
|
|
|
|
ENST00000564228.5:c.1424+1G>T
|
ENSP00000455261.1:n.1424+1G>T
|
|
|
ENST00000564403.6:c.1656G>T
|
ENSP00000457263.1:p.Arg552Ser
|
|
|
ENST00000564999.5:c.1637+1G>T
|
ENSP00000457649.1:n.1637+1G>T
|
|
|
ENST00000565018.6:c.1385+1G>T
|
ENSP00000455984.2:n.1385+1G>T
|
|
|
ENST00000566279.5:c.1458G>T
|
ENSP00000456125.1:p.Arg486Ser
|
|
|
ENST00000566286.5:c.1628+1G>T
|
ENSP00000455418.2:n.1628+1G>T
|
|
|
ENST00000567880.5:c.1457+1G>T
|
ENSP00000454366.1:n.1457+1G>T
|
|
|
ENST00000568673.5:c.1566G>T
|
ENSP00000455135.1:p.Arg522Ser
|
|
|
ENST00000568740.5:c.1562+1G>T
|
ENSP00000455346.1:n.1562+1G>T
|
|
|
ENST00000570177.6:c.1247+1G>T
|
ENSP00000454647.1:n.1247+1G>T
|
|
|
ENST00000570287.6:c.1157+1G>T
|
ENSP00000455763.1:n.1157+1G>T
|
|
|
ENST00000616053.4:c.1385+1G>T
|
ENSP00000478549.1:n.1385+1G>T
|
|
|
ENST00000626466.1:n.672+1G>T
|
|
|
|
ENST00000626584.2:c.989+1G>T
|
ENSP00000486072.1:n.989+1G>T
|
|
|
ENST00000629387.2:c.1638G>T
|
ENSP00000486670.1:p.Arg546Ser
|
|
|
NM_001083962.1:c.1638G>T
|
NP_001077431.1:p.Arg546Ser
|
|
|
NM_001243226.2:c.1944G>T
|
NP_001230155.2:p.Arg648Ser
|
|
|
NM_001243227.1:c.1566G>T
|
NP_001230156.1:p.Arg522Ser
|
|
|
NM_001243228.1:c.1656G>T
|
NP_001230157.1:p.Arg552Ser
|
|
|
NM_001243230.1:c.1628+1G>T
|
NP_001230159.1:n.1628+1G>T
|
|
|
NM_001243231.1:c.1511+1G>T
|
NP_001230160.1:n.1511+1G>T
|
|
|
NM_001243232.1:c.1425G>T
|
NP_001230161.1:p.Arg475Ser
|
|
|
NM_001243233.1:c.1247+1G>T
|
NP_001230162.1:n.1247+1G>T
|
|
|
NM_001243234.1:c.1158G>T
|
NP_001230163.1:p.Arg386Ser
|
|
|
NM_001243235.1:c.1157+1G>T
|
NP_001230164.1:n.1157+1G>T
|
|
|
NM_001243236.1:c.1157+1G>T
|
NP_001230165.1:n.1157+1G>T
|
|
|
NM_001306207.1:c.1565+1G>T
|
NP_001293136.1:n.1565+1G>T
|
|
|
NM_001306208.1:c.1424+1G>T
|
NP_001293137.1:n.1424+1G>T
|
|
|
NM_003199.2:c.1637+1G>T
|
NP_003190.1:n.1637+1G>T
|
|
|
XM_005266739.3:c.1566G>T
|
XP_005266796.2:p.Arg522Ser
|
|
|
XM_005266741.3:c.1635G>T
|
XP_005266798.1:p.Arg545Ser
|
|
|
XM_005266743.3:c.1566G>T
|
XP_005266800.1:p.Arg522Ser
|
|
|
XM_005266744.3:c.1566G>T
|
XP_005266801.1:p.Arg522Ser
|
|
|
XM_005266745.3:c.1563G>T
|
XP_005266802.1:p.Arg521Ser
|
|
|
XM_005266747.3:c.1512G>T
|
XP_005266804.1:p.Arg504Ser
|
|
|
XM_005266749.3:c.1428G>T
|
XP_005266806.1:p.Arg476Ser
|
|
|
XM_005266752.3:c.1248G>T
|
XP_005266809.1:p.Arg416Ser
|
|
|
XM_005266754.3:c.1248G>T
|
XP_005266811.1:p.Arg416Ser
|
|
|
XM_005266755.3:c.1248G>T
|
XP_005266812.1:p.Arg416Ser
|
|
|
XM_005266761.3:c.1155G>T
|
XP_005266818.1:p.Arg385Ser
|
|
|
XM_006722536.2:c.1638G>T
|
XP_006722599.1:p.Arg546Ser
|
|
|
XM_006722537.2:c.1638G>T
|
XP_006722600.1:p.Arg546Ser
|
|
|
XM_006722538.2:c.1563G>T
|
XP_006722601.1:p.Arg521Ser
|
|
|
XM_006722539.2:c.1248G>T
|
XP_006722602.1:p.Arg416Ser
|
|
|
XM_006722540.2:c.1247+1G>T
|
XP_006722603.1:n.1247+1G>T
|
|
|
XM_011526154.1:c.1941G>T
|
XP_011524456.1:p.Arg647Ser
|
|
|
XM_011526155.1:c.1941G>T
|
XP_011524457.1:p.Arg647Ser
|
|
|
XM_011526156.1:c.1943+1G>T
|
XP_011524458.1:n.1943+1G>T
|
|
|
XM_011526157.1:c.1940+1G>T
|
XP_011524459.1:n.1940+1G>T
|
|
|
XM_011526158.1:c.1632G>T
|
XP_011524460.1:p.Arg544Ser
|
|
|
XM_011526159.1:c.1248G>T
|
XP_011524461.1:p.Arg416Ser
|
|
|
XM_011526160.1:c.1248G>T
|
XP_011524462.1:p.Arg416Ser
|
|
|
XM_011526161.1:c.1248G>T
|
XP_011524463.1:p.Arg416Ser
|
|
|
XM_011526162.1:c.1248G>T
|
XP_011524464.1:p.Arg416Ser
|
|
|
XM_011526163.1:c.1248G>T
|
XP_011524465.1:p.Arg416Ser
|
|
|
XM_011526164.1:c.1247+1G>T
|
XP_011524466.1:n.1247+1G>T
|
|
|
NM_001330604.2:c.1635G>T
|
NP_001317533.1:p.Arg545Ser
|
|
|
NM_001330605.2:c.1248G>T
|
NP_001317534.1:p.Arg416Ser
|
|
|
NM_001348211.1:c.1512G>T
|
NP_001335140.1:p.Arg504Ser
|
|
|
NM_001348212.1:c.1247+1G>T
|
NP_001335141.1:n.1247+1G>T
|
|
|
NM_001348213.1:c.1248G>T
|
NP_001335142.1:p.Arg416Ser
|
|
|
NM_001348214.1:c.1154+1G>T
|
NP_001335143.1:n.1154+1G>T
|
|
|
NM_001348215.1:c.990G>T
|
NP_001335144.1:p.Arg330Ser
|
|
|
NM_001348216.1:c.1158G>T
|
NP_001335145.1:p.Arg386Ser
|
|
|
NM_001348217.1:c.1566G>T
|
NP_001335146.1:p.Arg522Ser
|
|
|
NM_001348218.1:c.1566G>T
|
NP_001335147.1:p.Arg522Ser
|
|
|
NM_001348219.1:c.1565+1G>T
|
NP_001335148.1:n.1565+1G>T
|
|
|
NM_001348220.1:c.1562+1G>T
|
NP_001335149.1:n.1562+1G>T
|
|
|
XM_005266739.4:c.1566G>T
|
XP_005266796.2:p.Arg522Ser
|
|
|
XM_005266741.4:c.1635G>T
|
XP_005266798.1:p.Arg545Ser
|
|
|
XM_005266745.4:c.1563G>T
|
XP_005266802.1:p.Arg521Ser
|
|
|
XM_005266749.4:c.1428G>T
|
XP_005266806.1:p.Arg476Ser
|
|
|
XM_005266752.5:c.1248G>T
|
XP_005266809.1:p.Arg416Ser
|
|
|
XM_005266755.5:c.1248G>T
|
XP_005266812.1:p.Arg416Ser
|
|
|
XM_005266761.4:c.1155G>T
|
XP_005266818.1:p.Arg385Ser
|
|
|
XM_006722536.3:c.1638G>T
|
XP_006722599.1:p.Arg546Ser
|
|
|
XM_006722537.3:c.1638G>T
|
XP_006722600.1:p.Arg546Ser
|
|
|
XM_006722538.3:c.1563G>T
|
XP_006722601.1:p.Arg521Ser
|
|
|
XM_017025934.2:c.1563G>T
|
XP_016881423.1:p.Arg521Ser
|
|
|
XM_017025935.2:c.1563G>T
|
XP_016881424.1:p.Arg521Ser
|
|
|
XM_017025936.2:c.1565+1G>T
|
XP_016881425.1:n.1565+1G>T
|
|
|
XM_017025937.2:c.1562+1G>T
|
XP_016881426.1:n.1562+1G>T
|
|
|
XM_017025938.2:c.1635G>T
|
XP_016881427.1:p.Arg545Ser
|
|
|
XM_017025940.2:c.1637+1G>T
|
XP_016881429.1:n.1637+1G>T
|
|
|
XM_017025941.2:c.1637+1G>T
|
XP_016881430.1:n.1637+1G>T
|
|
|
XM_017025942.2:c.1634+1G>T
|
XP_016881431.1:n.1634+1G>T
|
|
|
XM_017025943.2:c.1634+1G>T
|
XP_016881432.1:n.1634+1G>T
|
|
|
XM_017025944.2:c.1563G>T
|
XP_016881433.1:p.Arg521Ser
|
|
|
XM_017025945.2:c.1563G>T
|
XP_016881434.1:p.Arg521Ser
|
|
|
XM_017025946.2:c.1565+1G>T
|
XP_016881435.1:n.1565+1G>T
|
|
|
XM_017025948.2:c.1562+1G>T
|
XP_016881437.1:n.1562+1G>T
|
|
|
XM_017025950.2:c.1559+1G>T
|
XP_016881439.1:n.1559+1G>T
|
|
|
XM_017025951.2:c.1509G>T
|
XP_016881440.1:p.Arg503Ser
|
|
|
XM_017025952.2:c.1422G>T
|
XP_016881441.1:p.Arg474Ser
|
|
|
XM_017025953.2:c.1427+1G>T
|
XP_016881442.1:n.1427+1G>T
|
|
|
XM_017025954.2:c.1245G>T
|
XP_016881443.1:p.Arg415Ser
|
|
|
XM_017025956.2:c.1247+1G>T
|
XP_016881445.1:n.1247+1G>T
|
|
|
XM_024451240.1:c.1563G>T
|
XP_024307008.1:p.Arg521Ser
|
|
|
XM_024451241.1:c.1401G>T
|
XP_024307009.1:p.Arg467Ser
|
|
|
NM_001083962.2:c.1638G>T
MANE Select
|
NP_001077431.1:p.Arg546Ser
|
|
|
NM_001243226.3:c.1944G>T
|
NP_001230155.2:p.Arg648Ser
|
|
|
NM_001243227.2:c.1566G>T
|
NP_001230156.1:p.Arg522Ser
|
|
|
NM_001243228.2:c.1656G>T
|
NP_001230157.1:p.Arg552Ser
|
|
|
NM_001243231.2:c.1511+1G>T
|
NP_001230160.1:n.1511+1G>T
|
|
|
NM_001243233.2:c.1247+1G>T
|
NP_001230162.1:n.1247+1G>T
|
|
|
NM_001243234.2:c.1158G>T
|
NP_001230163.1:p.Arg386Ser
|
|
|
NM_001243235.2:c.1157+1G>T
|
NP_001230164.1:n.1157+1G>T
|
|
|
NM_001243236.2:c.1157+1G>T
|
NP_001230165.1:n.1157+1G>T
|
|
|
NM_001330604.3:c.1635G>T
|
NP_001317533.1:p.Arg545Ser
|
|
|
NM_001330605.3:c.1248G>T
|
NP_001317534.1:p.Arg416Ser
|
|
|
NM_001348211.2:c.1512G>T
|
NP_001335140.1:p.Arg504Ser
|
|
|
NM_001348212.2:c.1247+1G>T
|
NP_001335141.1:n.1247+1G>T
|
|
|
NM_001348213.2:c.1248G>T
|
NP_001335142.1:p.Arg416Ser
|
|
|
NM_001348214.2:c.1154+1G>T
|
NP_001335143.1:n.1154+1G>T
|
|
|
NM_001348215.2:c.990G>T
|
NP_001335144.1:p.Arg330Ser
|
|
|
NM_001348216.2:c.1158G>T
|
NP_001335145.1:p.Arg386Ser
|
|
|
NM_001348218.2:c.1566G>T
|
NP_001335147.1:p.Arg522Ser
|
|
|
NM_001348219.2:c.1565+1G>T
|
NP_001335148.1:n.1565+1G>T
|
|
|
NM_001369567.1:c.1638G>T
|
NP_001356496.1:p.Arg546Ser
|
|
|
NM_001369568.1:c.1638G>T
|
NP_001356497.1:p.Arg546Ser
|
|
|
NM_001369569.1:c.1635G>T
|
NP_001356498.1:p.Arg545Ser
|
|
|
NM_001369570.1:c.1635G>T
|
NP_001356499.1:p.Arg545Ser
|
|
|
NM_001369571.1:c.1637+1G>T
|
NP_001356500.1:n.1637+1G>T
|
|
|
NM_001369572.1:c.1637+1G>T
|
NP_001356501.1:n.1637+1G>T
|
|
|
NM_001369573.1:c.1634+1G>T
|
NP_001356502.1:n.1634+1G>T
|
|
|
NM_001369574.1:c.1634+1G>T
|
NP_001356503.1:n.1634+1G>T
|
|
|
NM_001369575.1:c.1566G>T
|
NP_001356504.1:p.Arg522Ser
|
|
|
NM_001369576.1:c.1563G>T
|
NP_001356505.1:p.Arg521Ser
|
|
|
NM_001369577.1:c.1563G>T
|
NP_001356506.1:p.Arg521Ser
|
|
|
NM_001369578.1:c.1563G>T
|
NP_001356507.1:p.Arg521Ser
|
|
|
NM_001369579.1:c.1563G>T
|
NP_001356508.1:p.Arg521Ser
|
|
|
NM_001369580.1:c.1563G>T
|
NP_001356509.1:p.Arg521Ser
|
|
|
NM_001369581.1:c.1563G>T
|
NP_001356510.1:p.Arg521Ser
|
|
|
NM_001369582.1:c.1565+1G>T
|
NP_001356511.1:n.1565+1G>T
|
|
|
NM_001369583.1:c.1565+1G>T
|
NP_001356512.1:n.1565+1G>T
|
|
|
NM_001369584.1:c.1562+1G>T
|
NP_001356513.1:n.1562+1G>T
|
|
|
NM_001369585.1:c.1562+1G>T
|
NP_001356514.1:n.1562+1G>T
|
|
|
NM_001369586.1:c.1569G>T
|
NP_001356515.1:p.Arg523Ser
|
|
|
NM_003199.3:c.1637+1G>T
|
NP_003190.1:n.1637+1G>T
|
|
|
NM_001243230.2:c.1628+1G>T
|
NP_001230159.1:n.1628+1G>T
|
|
