|
ENST00000509514.6:c.536C>T
|
ENSP00000426272.2:p.Ala179Val
|
|
|
ENST00000518349.6:c.113-17608C>T
|
ENSP00000507185.1:n.113-17608C>T
|
|
|
ENST00000682445.1:c.*417C>T
|
ENSP00000508061.1:n.*417C>T
|
|
|
ENST00000682531.1:n.637C>T
|
|
|
|
ENST00000682626.1:c.*42C>T
|
ENSP00000507857.1:n.*42C>T
|
|
|
ENST00000682996.1:c.536C>T
|
ENSP00000507792.1:p.Ala179Val
|
|
|
ENST00000683265.1:n.629C>T
|
|
|
|
ENST00000683371.1:c.*666C>T
|
ENSP00000508376.1:n.*666C>T
|
|
|
ENST00000683390.1:n.2226C>T
|
|
|
|
ENST00000683549.1:n.457C>T
|
|
|
|
ENST00000683936.1:c.*421C>T
|
ENSP00000507721.1:n.*421C>T
|
|
|
ENST00000683974.1:n.618C>T
|
|
|
|
ENST00000683996.1:c.125C>T
|
ENSP00000507060.1:p.Ala42Val
|
|
|
ENST00000684131.1:n.375C>T
|
|
|
|
ENST00000684160.1:c.*226C>T
|
ENSP00000507821.1:n.*226C>T
|
|
|
ENST00000684214.1:c.536C>T
|
ENSP00000508071.1:p.Ala179Val
|
|
|
ENST00000414835.7:c.611C>T
|
ENSP00000411960.3:p.Ala204Val
|
|
|
ENST00000510025.7:c.536C>T
MANE Select
|
ENSP00000424940.3:p.Ala179Val
|
|
|
ENST00000643250.1:c.*408C>T
|
ENSP00000494737.1:n.*408C>T
|
|
|
ENST00000644146.1:c.*114C>T
|
ENSP00000494808.1:n.*114C>T
|
|
|
ENST00000645099.1:c.95C>T
|
ENSP00000496091.1:p.Ala32Val
|
|
|
ENST00000645702.1:c.125C>T
|
ENSP00000496432.1:p.Ala42Val
|
|
|
ENST00000645832.1:c.*421C>T
|
ENSP00000494316.1:n.*421C>T
|
|
|
ENST00000646058.1:c.536C>T
|
ENSP00000493579.1:p.Ala179Val
|
|
|
ENST00000646355.1:c.*542C>T
|
ENSP00000493801.1:n.*542C>T
|
|
|
ENST00000646554.1:c.*514C>T
|
ENSP00000494542.1:n.*514C>T
|
|
|
ENST00000647335.1:c.*503C>T
|
ENSP00000495180.1:n.*503C>T
|
|
|
ENST00000647342.1:c.*467C>T
|
ENSP00000494992.1:n.*467C>T
|
|
|
ENST00000256216.10:c.536C>T
|
ENSP00000256216.6:p.Ala179Val
|
|
|
ENST00000414835.6:c.116C>T
|
ENSP00000411960.2:p.Ala39Val
|
|
|
ENST00000442060.7:c.536C>T
|
ENSP00000390208.3:p.Ala179Val
|
|
|
ENST00000503168.5:n.525C>T
|
|
|
|
ENST00000504811.5:c.611C>T
|
ENSP00000420914.1:p.Ala204Val
|
|
|
ENST00000505181.5:n.239C>T
|
|
|
|
ENST00000508788.5:n.438C>T
|
|
|
|
ENST00000509514.5:c.-349C>T
|
ENSP00000426272.1:n.-349C>T
|
|
|
ENST00000510025.5:c.464C>T
|
ENSP00000424940.1:p.Ala155Val
|
|
|
ENST00000512644.1:n.104C>T
|
|
|
|
ENST00000512841.5:n.584C>T
|
|
|
|
ENST00000513628.5:c.125C>T
|
ENSP00000425993.1:p.Ala42Val
|
|
|
ENST00000515235.6:n.596C>T
|
|
|
|
ENST00000515320.5:c.482C>T
|
ENSP00000424613.1:p.Ala161Val
|
|
|
NM_000414.3:c.536C>T
|
NP_000405.1:p.Ala179Val
|
|
|
NM_001199291.2:c.611C>T
|
NP_001186220.1:p.Ala204Val
|
|
|
NM_001199292.1:c.482C>T
|
NP_001186221.1:p.Ala161Val
|
|
|
NM_001292027.1:c.464C>T
|
NP_001278956.1:p.Ala155Val
|
|
|
NM_001292028.1:c.116C>T
|
NP_001278957.1:p.Ala39Val
|
|
|
NM_000414.4:c.536C>T
MANE Select
|
NP_000405.1:p.Ala179Val
|
|
|
NM_001199291.3:c.611C>T
|
NP_001186220.1:p.Ala204Val
|
|
|
NM_001199292.2:c.482C>T
|
NP_001186221.1:p.Ala161Val
|
|
|
NM_001292027.2:c.464C>T
|
NP_001278956.1:p.Ala155Val
|
|
|
NM_001292028.2:c.116C>T
|
NP_001278957.1:p.Ala39Val
|
|
|
NM_001374497.1:c.527C>T
|
NP_001361426.1:p.Ala176Val
|
|
|
NM_001374498.1:c.536C>T
|
NP_001361427.1:p.Ala179Val
|
|
|
NM_001374499.1:c.209C>T
|
NP_001361428.1:p.Ala70Val
|
|
|
NM_001374500.1:c.95C>T
|
NP_001361429.1:p.Ala32Val
|
|
|
NM_001374501.1:c.125C>T
|
NP_001361430.1:p.Ala42Val
|
|
|
NM_001374502.1:c.125C>T
|
NP_001361431.1:p.Ala42Val
|
|
|
NM_001374503.1:c.125C>T
|
NP_001361432.1:p.Ala42Val
|
|
|
NR_164653.1:n.615C>T
|
|
|
|
NR_164654.1:n.803C>T
|
|
|
