|
ENST00000509514.6:c.1853A>C
|
ENSP00000426272.2:p.Glu618Ala
|
|
|
ENST00000518349.6:c.1166A>C
|
ENSP00000507185.1:p.Glu389Ala
|
|
|
ENST00000682445.1:c.*1803A>C
|
ENSP00000508061.1:n.*1803A>C
|
|
|
ENST00000682531.1:n.3814A>C
|
|
|
|
ENST00000682626.1:c.*1428A>C
|
ENSP00000507857.1:n.*1428A>C
|
|
|
ENST00000682996.1:c.1850A>C
|
ENSP00000507792.1:p.Glu617Ala
|
|
|
ENST00000683265.1:n.3708A>C
|
|
|
|
ENST00000683335.1:n.3324A>C
|
|
|
|
ENST00000683371.1:c.*2052A>C
|
ENSP00000508376.1:n.*2052A>C
|
|
|
ENST00000683372.1:n.3932A>C
|
|
|
|
ENST00000683390.1:n.3612A>C
|
|
|
|
ENST00000683476.1:n.764A>C
|
|
|
|
ENST00000683549.1:n.3536A>C
|
|
|
|
ENST00000683936.1:c.*3500A>C
|
ENSP00000507721.1:n.*3500A>C
|
|
|
ENST00000683974.1:n.3651A>C
|
|
|
|
ENST00000683996.1:c.*1132A>C
|
ENSP00000507060.1:n.*1132A>C
|
|
|
ENST00000684131.1:n.3454A>C
|
|
|
|
ENST00000684160.1:c.*1612A>C
|
ENSP00000507821.1:n.*1612A>C
|
|
|
ENST00000684214.1:c.1854+1353A>C
|
ENSP00000508071.1:n.1854+1353A>C
|
|
|
ENST00000414835.7:c.1997A>C
|
ENSP00000411960.3:p.Glu666Ala
|
|
|
ENST00000510025.7:c.1922A>C
MANE Select
|
ENSP00000424940.3:p.Glu641Ala
|
|
|
ENST00000643250.1:c.*1794A>C
|
ENSP00000494737.1:n.*1794A>C
|
|
|
ENST00000644146.1:c.*3193A>C
|
ENSP00000494808.1:n.*3193A>C
|
|
|
ENST00000645099.1:c.1481A>C
|
ENSP00000496091.1:p.Glu494Ala
|
|
|
ENST00000645702.1:c.*1325A>C
|
ENSP00000496432.1:n.*1325A>C
|
|
|
ENST00000645832.1:c.*1807A>C
|
ENSP00000494316.1:n.*1807A>C
|
|
|
ENST00000646058.1:c.1922A>C
|
ENSP00000493579.1:p.Glu641Ala
|
|
|
ENST00000646355.1:c.*1928A>C
|
ENSP00000493801.1:n.*1928A>C
|
|
|
ENST00000646554.1:c.*1900A>C
|
ENSP00000494542.1:n.*1900A>C
|
|
|
ENST00000647335.1:c.*1889A>C
|
ENSP00000495180.1:n.*1889A>C
|
|
|
ENST00000647342.1:c.*1853A>C
|
ENSP00000494992.1:n.*1853A>C
|
|
|
ENST00000256216.10:c.1922A>C
|
ENSP00000256216.6:p.Glu641Ala
|
|
|
ENST00000414835.6:c.1502A>C
|
ENSP00000411960.2:p.Glu501Ala
|
|
|
ENST00000442060.7:c.*477A>C
|
ENSP00000390208.3:n.*477A>C
|
|
|
ENST00000504811.5:c.1997A>C
|
ENSP00000420914.1:p.Glu666Ala
|
|
|
ENST00000509514.5:c.1136A>C
|
ENSP00000426272.1:p.Glu379Ala
|
|
|
ENST00000509606.1:n.217A>C
|
|
|
|
ENST00000509951.5:n.309+1353A>C
|
|
|
|
ENST00000510025.5:c.1850A>C
|
ENSP00000424940.1:p.Glu617Ala
|
|
|
ENST00000513628.5:c.1511A>C
|
ENSP00000425993.1:p.Glu504Ala
|
|
|
ENST00000515235.6:n.3675A>C
|
|
|
|
ENST00000515320.5:c.1868A>C
|
ENSP00000424613.1:p.Glu623Ala
|
|
|
ENST00000522415.5:n.589A>C
|
|
|
|
NM_000414.3:c.1922A>C
|
NP_000405.1:p.Glu641Ala
|
|
|
NM_001199291.2:c.1997A>C
|
NP_001186220.1:p.Glu666Ala
|
|
|
NM_001199292.1:c.1868A>C
|
NP_001186221.1:p.Glu623Ala
|
|
|
NM_001292027.1:c.1850A>C
|
NP_001278956.1:p.Glu617Ala
|
|
|
NM_001292028.1:c.1502A>C
|
NP_001278957.1:p.Glu501Ala
|
|
|
NM_000414.4:c.1922A>C
MANE Select
|
NP_000405.1:p.Glu641Ala
|
|
|
NM_001199291.3:c.1997A>C
|
NP_001186220.1:p.Glu666Ala
|
|
|
NM_001199292.2:c.1868A>C
|
NP_001186221.1:p.Glu623Ala
|
|
|
NM_001292027.2:c.1850A>C
|
NP_001278956.1:p.Glu617Ala
|
|
|
NM_001292028.2:c.1502A>C
|
NP_001278957.1:p.Glu501Ala
|
|
|
NM_001374497.1:c.1913A>C
|
NP_001361426.1:p.Glu638Ala
|
|
|
NM_001374498.1:c.1850A>C
|
NP_001361427.1:p.Glu617Ala
|
|
|
NM_001374499.1:c.1595A>C
|
NP_001361428.1:p.Glu532Ala
|
|
|
NM_001374500.1:c.1481A>C
|
NP_001361429.1:p.Glu494Ala
|
|
|
NM_001374501.1:c.1511A>C
|
NP_001361430.1:p.Glu504Ala
|
|
|
NM_001374502.1:c.1511A>C
|
NP_001361431.1:p.Glu504Ala
|
|
|
NM_001374503.1:c.1511A>C
|
NP_001361432.1:p.Glu504Ala
|
|
|
NR_164653.1:n.2019A>C
|
|
|
|
NR_164654.1:n.2287A>C
|
|
|
