|
ENST00000524561.2:n.3789C>A
|
|
|
|
ENST00000528374.2:c.779C>A
|
|
|
|
ENST00000529967.6:n.2527C>A
|
|
|
|
ENST00000532220.2:n.3421C>A
|
|
|
|
ENST00000642611.2:n.5388C>A
|
|
|
|
ENST00000644057.2:n.631C>A
|
|
|
|
ENST00000645004.2:n.1687C>A
|
|
|
|
ENST00000682051.1:n.4350C>A
|
|
|
|
ENST00000682110.1:n.4403C>A
|
|
|
|
ENST00000682140.1:c.4054C>A
|
ENSP00000507829.1:p.His1352Asn
|
|
|
ENST00000682185.1:n.5493C>A
|
|
|
|
ENST00000682204.1:c.*2326C>A
|
ENSP00000507094.1:n.*2326C>A
|
|
|
ENST00000682215.1:n.4770C>A
|
|
|
|
ENST00000682288.1:c.*2619C>A
|
ENSP00000507506.1:n.*2619C>A
|
|
|
ENST00000682442.1:n.4623C>A
|
|
|
|
ENST00000682528.1:n.4480C>A
|
|
|
|
ENST00000682673.1:n.4347C>A
|
|
|
|
ENST00000682805.1:n.4808C>A
|
|
|
|
ENST00000682965.1:c.*610C>A
|
ENSP00000508229.1:n.*610C>A
|
|
|
ENST00000683093.1:n.5487C>A
|
|
|
|
ENST00000683136.1:c.4071C>A
|
ENSP00000507768.1:p.Asp1357Glu
|
|
|
ENST00000683153.1:n.4445C>A
|
|
|
|
ENST00000683365.1:n.4505C>A
|
|
|
|
ENST00000683377.1:n.4403C>A
|
|
|
|
ENST00000683456.1:c.*1325C>A
|
ENSP00000508318.1:n.*1325C>A
|
|
|
ENST00000683522.1:n.4403C>A
|
|
|
|
ENST00000683562.1:c.*2357C>A
|
ENSP00000508265.1:n.*2357C>A
|
|
|
ENST00000683693.1:n.5835C>A
|
|
|
|
ENST00000683725.1:c.4188C>A
|
ENSP00000507496.1:p.Asp1396Glu
|
|
|
ENST00000684010.1:n.4398C>A
|
|
|
|
ENST00000684157.1:n.5388C>A
|
|
|
|
ENST00000684253.1:n.4306C>A
|
|
|
|
ENST00000684288.1:c.*2360C>A
|
ENSP00000507143.1:n.*2360C>A
|
|
|
ENST00000684313.1:n.3835C>A
|
|
|
|
ENST00000684332.1:n.4476C>A
|
|
|
|
ENST00000684371.1:n.4509C>A
|
|
|
|
ENST00000684404.1:n.5431C>A
|
|
|
|
ENST00000684442.1:n.4627C>A
|
|
|
|
ENST00000684555.1:c.*2400C>A
|
ENSP00000507705.1:n.*2400C>A
|
|
|
ENST00000684571.1:c.4029C>A
|
ENSP00000506935.1:p.Asp1343Glu
|
|
|
ENST00000684593.1:c.*3893C>A
|
ENSP00000507005.1:n.*3893C>A
|
|
|
ENST00000684711.1:c.*2584C>A
|
ENSP00000506841.1:n.*2584C>A
|
|
|
ENST00000302539.9:c.4191C>A
|
ENSP00000303960.4:p.Asp1397Glu
|
|
|
ENST00000389817.8:c.4188C>A
MANE Select
|
ENSP00000374467.4:p.Asp1396Glu
|
|
|
ENST00000642271.1:c.4185C>A
|
ENSP00000493749.1:p.Asp1395Glu
|
|
|
ENST00000642579.1:c.2242C>A
|
|
|
|
ENST00000642611.1:n.5273C>A
|
|
|
|
ENST00000642902.1:c.3970C>A
|
|
|
|
ENST00000643260.1:c.4188C>A
|
ENSP00000494450.1:p.Asp1396Glu
|
|
|
ENST00000643562.1:c.*2310C>A
|
ENSP00000496124.1:n.*2310C>A
|
|
|
ENST00000643925.1:c.2828C>A
|
|
|
|
ENST00000644057.1:n.265C>A
|
|
|
|
ENST00000644484.1:c.*3574C>A
|
ENSP00000493558.1:n.*3574C>A
|
|
|
ENST00000644675.1:c.*2360C>A
|
ENSP00000494567.1:n.*2360C>A
|
|
|
ENST00000644757.1:c.*3202+402C>A
|
ENSP00000495085.1:n.*3202+402C>A
|
|
|
ENST00000644772.1:c.4254C>A
|
ENSP00000494321.1:p.Asp1418Glu
|
|
|
ENST00000645004.1:n.1881C>A
|
|
|
|
ENST00000645076.1:c.3387C>A
|
|
|
|
ENST00000645417.1:c.1376C>A
|
|
|
|
ENST00000645744.1:c.*3953C>A
|
ENSP00000494564.1:n.*3953C>A
|
|
|
ENST00000645760.1:c.4609C>A
|
|
|
|
ENST00000645884.1:c.*1471C>A
|
ENSP00000495516.1:n.*1471C>A
|
|
|
ENST00000646003.1:c.*2290C>A
|
ENSP00000495259.1:n.*2290C>A
|
|
|
ENST00000646207.1:c.*3025C>A
|
ENSP00000495025.1:n.*3025C>A
|
|
|
ENST00000646276.1:c.*3592C>A
|
ENSP00000496070.1:n.*3592C>A
|
|
|
ENST00000646592.1:c.3494C>A
|
|
|
|
ENST00000646902.1:c.4155C>A
|
ENSP00000494101.1:p.Asp1385Glu
|
|
|
ENST00000646993.1:c.*2730C>A
|
ENSP00000493720.1:n.*2730C>A
|
|
|
ENST00000647013.1:c.4194C>A
|
ENSP00000496741.1:n.4194C>A
|
|
|
ENST00000647015.1:c.3939C>A
|
ENSP00000495389.1:p.Asp1313Glu
|
|
|
ENST00000647086.1:c.*3774C>A
|
ENSP00000493677.1:n.*3774C>A
|
|
|
ENST00000647158.1:c.*2475C>A
|
ENSP00000495744.1:n.*2475C>A
|
|
|
ENST00000302539.8:c.4191C>A
|
ENSP00000303960.4:p.Asp1397Glu
|
|
|
ENST00000389817.7:c.4188C>A
|
ENSP00000374467.3:p.Asp1396Glu
|
|
|
ENST00000525022.1:n.54C>A
|
|
|
|
ENST00000526168.5:c.56C>A
|
|
|
|
ENST00000531642.5:c.24C>A
|
|
|
|
NM_000352.4:c.4188C>A
|
NP_000343.2:p.Asp1396Glu
|
|
|
NM_001287174.1:c.4191C>A
|
NP_001274103.1:p.Asp1397Glu
|
|
|
XM_011520331.1:c.4188C>A
|
XP_011518633.1:p.Asp1396Glu
|
|
|
XM_011520332.1:c.4191C>A
|
XP_011518634.1:p.Asp1397Glu
|
|
|
XM_011520333.1:c.2688C>A
|
XP_011518635.1:p.Asp896Glu
|
|
|
XR_930890.1:n.4254C>A
|
|
|
|
NM_001351295.1:c.4254C>A
|
NP_001338224.1:p.Asp1418Glu
|
|
|
NM_001351296.1:c.4188C>A
|
NP_001338225.1:p.Asp1396Glu
|
|
|
NM_001351297.1:c.4185C>A
|
NP_001338226.1:p.Asp1395Glu
|
|
|
NR_147094.1:n.4483C>A
|
|
|
|
XM_017018197.2:c.4257C>A
|
XP_016873686.1:p.Asp1419Glu
|
|
|
XM_017018199.1:c.4254C>A
|
XP_016873688.1:p.Asp1418Glu
|
|
|
XM_017018201.2:c.4257C>A
|
XP_016873690.1:p.Asp1419Glu
|
|
|
XM_017018202.1:c.2754C>A
|
XP_016873691.1:p.Asp918Glu
|
|
|
XM_017018204.1:c.2145C>A
|
XP_016873693.1:p.Asp715Glu
|
|
|
XM_024448668.1:c.2556C>A
|
XP_024304436.1:p.Asp852Glu
|
|
|
XR_001747945.2:n.4329C>A
|
|
|
|
XR_001747946.2:n.4260C>A
|
|
|
|
XR_002957189.1:n.5910C>A
|
|
|
|
NM_000352.6:c.4188C>A
MANE Select
|
NP_000343.2:p.Asp1396Glu
|
|
|
NM_001287174.2:c.4191C>A
|
NP_001274103.1:p.Asp1397Glu
|
|
|
NM_001351295.2:c.4254C>A
|
NP_001338224.1:p.Asp1418Glu
|
|
|
NM_001351296.2:c.4188C>A
|
NP_001338225.1:p.Asp1396Glu
|
|
|
NM_001351297.2:c.4185C>A
|
NP_001338226.1:p.Asp1395Glu
|
|
|
NR_147094.2:n.4483C>A
|
|
|
|
NM_001287174.3:c.4191C>A
|
NP_001274103.1:p.Asp1397Glu
|
|
