|
ENST00000509514.6:c.1268T>A
|
ENSP00000426272.2:p.Leu423Ter
|
|
|
ENST00000518349.6:c.512T>A
|
ENSP00000507185.1:p.Leu171Ter
|
|
|
ENST00000682445.1:c.*1149T>A
|
ENSP00000508061.1:n.*1149T>A
|
|
|
ENST00000682531.1:n.3160T>A
|
|
|
|
ENST00000682626.1:c.*774T>A
|
ENSP00000507857.1:n.*774T>A
|
|
|
ENST00000682996.1:c.1262-2317T>A
|
ENSP00000507792.1:n.1262-2317T>A
|
|
|
ENST00000683265.1:n.3054T>A
|
|
|
|
ENST00000683371.1:c.*1398T>A
|
ENSP00000508376.1:n.*1398T>A
|
|
|
ENST00000683372.1:n.3278T>A
|
|
|
|
ENST00000683390.1:n.2958T>A
|
|
|
|
ENST00000683549.1:n.2882T>A
|
|
|
|
ENST00000683936.1:c.*2846T>A
|
ENSP00000507721.1:n.*2846T>A
|
|
|
ENST00000683974.1:n.3043T>A
|
|
|
|
ENST00000683996.1:c.*478T>A
|
ENSP00000507060.1:n.*478T>A
|
|
|
ENST00000684131.1:n.2800T>A
|
|
|
|
ENST00000684160.1:c.*958T>A
|
ENSP00000507821.1:n.*958T>A
|
|
|
ENST00000684214.1:c.1268T>A
|
ENSP00000508071.1:p.Leu423Ter
|
|
|
ENST00000414835.7:c.1343T>A
|
ENSP00000411960.3:p.Leu448Ter
|
|
|
ENST00000510025.7:c.1268T>A
MANE Select
|
ENSP00000424940.3:p.Leu423Ter
|
|
|
ENST00000643250.1:c.*1140T>A
|
ENSP00000494737.1:n.*1140T>A
|
|
|
ENST00000644146.1:c.*2539T>A
|
ENSP00000494808.1:n.*2539T>A
|
|
|
ENST00000645099.1:c.827T>A
|
ENSP00000496091.1:p.Leu276Ter
|
|
|
ENST00000645702.1:c.*671T>A
|
ENSP00000496432.1:n.*671T>A
|
|
|
ENST00000645832.1:c.*1153T>A
|
ENSP00000494316.1:n.*1153T>A
|
|
|
ENST00000646058.1:c.1268T>A
|
ENSP00000493579.1:p.Leu423Ter
|
|
|
ENST00000646355.1:c.*1274T>A
|
ENSP00000493801.1:n.*1274T>A
|
|
|
ENST00000646554.1:c.*1246T>A
|
ENSP00000494542.1:n.*1246T>A
|
|
|
ENST00000647335.1:c.*1235T>A
|
ENSP00000495180.1:n.*1235T>A
|
|
|
ENST00000647342.1:c.*1199T>A
|
ENSP00000494992.1:n.*1199T>A
|
|
|
ENST00000256216.10:c.1268T>A
|
ENSP00000256216.6:p.Leu423Ter
|
|
|
ENST00000414835.6:c.848T>A
|
ENSP00000411960.2:p.Leu283Ter
|
|
|
ENST00000442060.7:c.1268T>A
|
ENSP00000390208.3:p.Leu423Ter
|
|
|
ENST00000504811.5:c.1343T>A
|
ENSP00000420914.1:p.Leu448Ter
|
|
|
ENST00000509514.5:c.482T>A
|
ENSP00000426272.1:p.Leu161Ter
|
|
|
ENST00000510025.5:c.1196T>A
|
ENSP00000424940.1:p.Leu399Ter
|
|
|
ENST00000513628.5:c.857T>A
|
ENSP00000425993.1:p.Leu286Ter
|
|
|
ENST00000515235.6:n.3021T>A
|
|
|
|
ENST00000515320.5:c.1214T>A
|
ENSP00000424613.1:p.Leu405Ter
|
|
|
ENST00000518349.5:n.402T>A
|
|
|
|
ENST00000520244.5:n.51T>A
|
|
|
|
NM_000414.3:c.1268T>A
|
NP_000405.1:p.Leu423Ter
|
|
|
NM_001199291.2:c.1343T>A
|
NP_001186220.1:p.Leu448Ter
|
|
|
NM_001199292.1:c.1214T>A
|
NP_001186221.1:p.Leu405Ter
|
|
|
NM_001292027.1:c.1196T>A
|
NP_001278956.1:p.Leu399Ter
|
|
|
NM_001292028.1:c.848T>A
|
NP_001278957.1:p.Leu283Ter
|
|
|
NM_000414.4:c.1268T>A
MANE Select
|
NP_000405.1:p.Leu423Ter
|
|
|
NM_001199291.3:c.1343T>A
|
NP_001186220.1:p.Leu448Ter
|
|
|
NM_001199292.2:c.1214T>A
|
NP_001186221.1:p.Leu405Ter
|
|
|
NM_001292027.2:c.1196T>A
|
NP_001278956.1:p.Leu399Ter
|
|
|
NM_001292028.2:c.848T>A
|
NP_001278957.1:p.Leu283Ter
|
|
|
NM_001374497.1:c.1259T>A
|
NP_001361426.1:p.Leu420Ter
|
|
|
NM_001374498.1:c.1262-2317T>A
|
NP_001361427.1:n.1262-2317T>A
|
|
|
NM_001374499.1:c.941T>A
|
NP_001361428.1:p.Leu314Ter
|
|
|
NM_001374500.1:c.827T>A
|
NP_001361429.1:p.Leu276Ter
|
|
|
NM_001374501.1:c.857T>A
|
NP_001361430.1:p.Leu286Ter
|
|
|
NM_001374502.1:c.857T>A
|
NP_001361431.1:p.Leu286Ter
|
|
|
NM_001374503.1:c.857T>A
|
NP_001361432.1:p.Leu286Ter
|
|
|
NR_164653.1:n.1365T>A
|
|
|
|
NR_164654.1:n.1633T>A
|
|
|
