|
ENST00000509514.6:c.517G>C
|
ENSP00000426272.2:p.Gly173Arg
|
|
|
ENST00000518349.6:c.113-17627G>C
|
ENSP00000507185.1:n.113-17627G>C
|
|
|
ENST00000682445.1:c.*398G>C
|
ENSP00000508061.1:n.*398G>C
|
|
|
ENST00000682531.1:n.618G>C
|
|
|
|
ENST00000682626.1:c.*23G>C
|
ENSP00000507857.1:n.*23G>C
|
|
|
ENST00000682996.1:c.517G>C
|
ENSP00000507792.1:p.Gly173Arg
|
|
|
ENST00000683265.1:n.610G>C
|
|
|
|
ENST00000683371.1:c.*647G>C
|
ENSP00000508376.1:n.*647G>C
|
|
|
ENST00000683390.1:n.2207G>C
|
|
|
|
ENST00000683549.1:n.438G>C
|
|
|
|
ENST00000683936.1:c.*402G>C
|
ENSP00000507721.1:n.*402G>C
|
|
|
ENST00000683974.1:n.599G>C
|
|
|
|
ENST00000683996.1:c.106G>C
|
ENSP00000507060.1:p.Gly36Arg
|
|
|
ENST00000684131.1:n.356G>C
|
|
|
|
ENST00000684160.1:c.*207G>C
|
ENSP00000507821.1:n.*207G>C
|
|
|
ENST00000684214.1:c.517G>C
|
ENSP00000508071.1:p.Gly173Arg
|
|
|
ENST00000414835.7:c.592G>C
|
ENSP00000411960.3:p.Gly198Arg
|
|
|
ENST00000510025.7:c.517G>C
MANE Select
|
ENSP00000424940.3:p.Gly173Arg
|
|
|
ENST00000643250.1:c.*389G>C
|
ENSP00000494737.1:n.*389G>C
|
|
|
ENST00000644146.1:c.*95G>C
|
ENSP00000494808.1:n.*95G>C
|
|
|
ENST00000645099.1:c.76G>C
|
ENSP00000496091.1:p.Gly26Arg
|
|
|
ENST00000645702.1:c.106G>C
|
ENSP00000496432.1:p.Gly36Arg
|
|
|
ENST00000645832.1:c.*402G>C
|
ENSP00000494316.1:n.*402G>C
|
|
|
ENST00000646058.1:c.517G>C
|
ENSP00000493579.1:p.Gly173Arg
|
|
|
ENST00000646355.1:c.*523G>C
|
ENSP00000493801.1:n.*523G>C
|
|
|
ENST00000646554.1:c.*495G>C
|
ENSP00000494542.1:n.*495G>C
|
|
|
ENST00000647335.1:c.*484G>C
|
ENSP00000495180.1:n.*484G>C
|
|
|
ENST00000647342.1:c.*448G>C
|
ENSP00000494992.1:n.*448G>C
|
|
|
ENST00000256216.10:c.517G>C
|
ENSP00000256216.6:p.Gly173Arg
|
|
|
ENST00000414835.6:c.97G>C
|
ENSP00000411960.2:p.Gly33Arg
|
|
|
ENST00000442060.7:c.517G>C
|
ENSP00000390208.3:p.Gly173Arg
|
|
|
ENST00000503168.5:n.506G>C
|
|
|
|
ENST00000504811.5:c.592G>C
|
ENSP00000420914.1:p.Gly198Arg
|
|
|
ENST00000505181.5:n.220G>C
|
|
|
|
ENST00000508788.5:n.419G>C
|
|
|
|
ENST00000509514.5:c.-368G>C
|
ENSP00000426272.1:n.-368G>C
|
|
|
ENST00000510025.5:c.445G>C
|
ENSP00000424940.1:p.Gly149Arg
|
|
|
ENST00000512644.1:n.85G>C
|
|
|
|
ENST00000512841.5:n.565G>C
|
|
|
|
ENST00000513628.5:c.106G>C
|
ENSP00000425993.1:p.Gly36Arg
|
|
|
ENST00000515235.6:n.577G>C
|
|
|
|
ENST00000515320.5:c.463G>C
|
ENSP00000424613.1:p.Gly155Arg
|
|
|
NM_000414.3:c.517G>C
|
NP_000405.1:p.Gly173Arg
|
|
|
NM_001199291.2:c.592G>C
|
NP_001186220.1:p.Gly198Arg
|
|
|
NM_001199292.1:c.463G>C
|
NP_001186221.1:p.Gly155Arg
|
|
|
NM_001292027.1:c.445G>C
|
NP_001278956.1:p.Gly149Arg
|
|
|
NM_001292028.1:c.97G>C
|
NP_001278957.1:p.Gly33Arg
|
|
|
NM_000414.4:c.517G>C
MANE Select
|
NP_000405.1:p.Gly173Arg
|
|
|
NM_001199291.3:c.592G>C
|
NP_001186220.1:p.Gly198Arg
|
|
|
NM_001199292.2:c.463G>C
|
NP_001186221.1:p.Gly155Arg
|
|
|
NM_001292027.2:c.445G>C
|
NP_001278956.1:p.Gly149Arg
|
|
|
NM_001292028.2:c.97G>C
|
NP_001278957.1:p.Gly33Arg
|
|
|
NM_001374497.1:c.508G>C
|
NP_001361426.1:p.Gly170Arg
|
|
|
NM_001374498.1:c.517G>C
|
NP_001361427.1:p.Gly173Arg
|
|
|
NM_001374499.1:c.190G>C
|
NP_001361428.1:p.Gly64Arg
|
|
|
NM_001374500.1:c.76G>C
|
NP_001361429.1:p.Gly26Arg
|
|
|
NM_001374501.1:c.106G>C
|
NP_001361430.1:p.Gly36Arg
|
|
|
NM_001374502.1:c.106G>C
|
NP_001361431.1:p.Gly36Arg
|
|
|
NM_001374503.1:c.106G>C
|
NP_001361432.1:p.Gly36Arg
|
|
|
NR_164653.1:n.596G>C
|
|
|
|
NR_164654.1:n.784G>C
|
|
|
