|
ENST00000509514.6:c.1879T>A
|
ENSP00000426272.2:p.Phe627Ile
|
|
|
ENST00000518349.6:c.1192T>A
|
ENSP00000507185.1:p.Phe398Ile
|
|
|
ENST00000682445.1:c.*1829T>A
|
ENSP00000508061.1:n.*1829T>A
|
|
|
ENST00000682531.1:n.3840T>A
|
|
|
|
ENST00000682626.1:c.*1454T>A
|
ENSP00000507857.1:n.*1454T>A
|
|
|
ENST00000682996.1:c.1876T>A
|
ENSP00000507792.1:p.Phe626Ile
|
|
|
ENST00000683265.1:n.3734T>A
|
|
|
|
ENST00000683335.1:n.3350T>A
|
|
|
|
ENST00000683371.1:c.*2078T>A
|
ENSP00000508376.1:n.*2078T>A
|
|
|
ENST00000683372.1:n.3958T>A
|
|
|
|
ENST00000683390.1:n.3638T>A
|
|
|
|
ENST00000683476.1:n.790T>A
|
|
|
|
ENST00000683549.1:n.3562T>A
|
|
|
|
ENST00000683936.1:c.*3526T>A
|
ENSP00000507721.1:n.*3526T>A
|
|
|
ENST00000683974.1:n.3677T>A
|
|
|
|
ENST00000683996.1:c.*1158T>A
|
ENSP00000507060.1:n.*1158T>A
|
|
|
ENST00000684131.1:n.3480T>A
|
|
|
|
ENST00000684160.1:c.*1638T>A
|
ENSP00000507821.1:n.*1638T>A
|
|
|
ENST00000684214.1:c.1854+1379T>A
|
ENSP00000508071.1:n.1854+1379T>A
|
|
|
ENST00000414835.7:c.2023T>A
|
ENSP00000411960.3:p.Phe675Ile
|
|
|
ENST00000510025.7:c.1948T>A
MANE Select
|
ENSP00000424940.3:p.Phe650Ile
|
|
|
ENST00000643250.1:c.*1820T>A
|
ENSP00000494737.1:n.*1820T>A
|
|
|
ENST00000644146.1:c.*3219T>A
|
ENSP00000494808.1:n.*3219T>A
|
|
|
ENST00000645099.1:c.1507T>A
|
ENSP00000496091.1:p.Phe503Ile
|
|
|
ENST00000645702.1:c.*1351T>A
|
ENSP00000496432.1:n.*1351T>A
|
|
|
ENST00000645832.1:c.*1833T>A
|
ENSP00000494316.1:n.*1833T>A
|
|
|
ENST00000646058.1:c.1948T>A
|
ENSP00000493579.1:p.Phe650Ile
|
|
|
ENST00000646355.1:c.*1954T>A
|
ENSP00000493801.1:n.*1954T>A
|
|
|
ENST00000646554.1:c.*1926T>A
|
ENSP00000494542.1:n.*1926T>A
|
|
|
ENST00000647335.1:c.*1915T>A
|
ENSP00000495180.1:n.*1915T>A
|
|
|
ENST00000647342.1:c.*1879T>A
|
ENSP00000494992.1:n.*1879T>A
|
|
|
ENST00000256216.10:c.1948T>A
|
ENSP00000256216.6:p.Phe650Ile
|
|
|
ENST00000414835.6:c.1528T>A
|
ENSP00000411960.2:p.Phe510Ile
|
|
|
ENST00000442060.7:c.*503T>A
|
ENSP00000390208.3:n.*503T>A
|
|
|
ENST00000504811.5:c.2023T>A
|
ENSP00000420914.1:p.Phe675Ile
|
|
|
ENST00000509514.5:c.1162T>A
|
ENSP00000426272.1:p.Phe388Ile
|
|
|
ENST00000509606.1:n.243T>A
|
|
|
|
ENST00000509951.5:n.309+1379T>A
|
|
|
|
ENST00000510025.5:c.1876T>A
|
ENSP00000424940.1:p.Phe626Ile
|
|
|
ENST00000513628.5:c.1537T>A
|
ENSP00000425993.1:p.Phe513Ile
|
|
|
ENST00000515235.6:n.3701T>A
|
|
|
|
ENST00000515320.5:c.1894T>A
|
ENSP00000424613.1:p.Phe632Ile
|
|
|
ENST00000522415.5:n.615T>A
|
|
|
|
NM_000414.3:c.1948T>A
|
NP_000405.1:p.Phe650Ile
|
|
|
NM_001199291.2:c.2023T>A
|
NP_001186220.1:p.Phe675Ile
|
|
|
NM_001199292.1:c.1894T>A
|
NP_001186221.1:p.Phe632Ile
|
|
|
NM_001292027.1:c.1876T>A
|
NP_001278956.1:p.Phe626Ile
|
|
|
NM_001292028.1:c.1528T>A
|
NP_001278957.1:p.Phe510Ile
|
|
|
NM_000414.4:c.1948T>A
MANE Select
|
NP_000405.1:p.Phe650Ile
|
|
|
NM_001199291.3:c.2023T>A
|
NP_001186220.1:p.Phe675Ile
|
|
|
NM_001199292.2:c.1894T>A
|
NP_001186221.1:p.Phe632Ile
|
|
|
NM_001292027.2:c.1876T>A
|
NP_001278956.1:p.Phe626Ile
|
|
|
NM_001292028.2:c.1528T>A
|
NP_001278957.1:p.Phe510Ile
|
|
|
NM_001374497.1:c.1939T>A
|
NP_001361426.1:p.Phe647Ile
|
|
|
NM_001374498.1:c.1876T>A
|
NP_001361427.1:p.Phe626Ile
|
|
|
NM_001374499.1:c.1621T>A
|
NP_001361428.1:p.Phe541Ile
|
|
|
NM_001374500.1:c.1507T>A
|
NP_001361429.1:p.Phe503Ile
|
|
|
NM_001374501.1:c.1537T>A
|
NP_001361430.1:p.Phe513Ile
|
|
|
NM_001374502.1:c.1537T>A
|
NP_001361431.1:p.Phe513Ile
|
|
|
NM_001374503.1:c.1537T>A
|
NP_001361432.1:p.Phe513Ile
|
|
|
NR_164653.1:n.2045T>A
|
|
|
|
NR_164654.1:n.2313T>A
|
|
|
