|
ENST00000509514.6:c.1872T>C
|
ENSP00000426272.2:p.Asn624=
|
|
|
ENST00000518349.6:c.1185T>C
|
ENSP00000507185.1:p.Asn395=
|
|
|
ENST00000682445.1:c.*1822T>C
|
ENSP00000508061.1:n.*1822T>C
|
|
|
ENST00000682531.1:n.3833T>C
|
|
|
|
ENST00000682626.1:c.*1447T>C
|
ENSP00000507857.1:n.*1447T>C
|
|
|
ENST00000682996.1:c.1869T>C
|
ENSP00000507792.1:p.Asn623=
|
|
|
ENST00000683265.1:n.3727T>C
|
|
|
|
ENST00000683335.1:n.3343T>C
|
|
|
|
ENST00000683371.1:c.*2071T>C
|
ENSP00000508376.1:n.*2071T>C
|
|
|
ENST00000683372.1:n.3951T>C
|
|
|
|
ENST00000683390.1:n.3631T>C
|
|
|
|
ENST00000683476.1:n.783T>C
|
|
|
|
ENST00000683549.1:n.3555T>C
|
|
|
|
ENST00000683936.1:c.*3519T>C
|
ENSP00000507721.1:n.*3519T>C
|
|
|
ENST00000683974.1:n.3670T>C
|
|
|
|
ENST00000683996.1:c.*1151T>C
|
ENSP00000507060.1:n.*1151T>C
|
|
|
ENST00000684131.1:n.3473T>C
|
|
|
|
ENST00000684160.1:c.*1631T>C
|
ENSP00000507821.1:n.*1631T>C
|
|
|
ENST00000684214.1:c.1854+1372T>C
|
ENSP00000508071.1:n.1854+1372T>C
|
|
|
ENST00000414835.7:c.2016T>C
|
ENSP00000411960.3:p.Asn672=
|
|
|
ENST00000510025.7:c.1941T>C
MANE Select
|
ENSP00000424940.3:p.Asn647=
|
|
|
ENST00000643250.1:c.*1813T>C
|
ENSP00000494737.1:n.*1813T>C
|
|
|
ENST00000644146.1:c.*3212T>C
|
ENSP00000494808.1:n.*3212T>C
|
|
|
ENST00000645099.1:c.1500T>C
|
ENSP00000496091.1:p.Asn500=
|
|
|
ENST00000645702.1:c.*1344T>C
|
ENSP00000496432.1:n.*1344T>C
|
|
|
ENST00000645832.1:c.*1826T>C
|
ENSP00000494316.1:n.*1826T>C
|
|
|
ENST00000646058.1:c.1941T>C
|
ENSP00000493579.1:p.Asn647=
|
|
|
ENST00000646355.1:c.*1947T>C
|
ENSP00000493801.1:n.*1947T>C
|
|
|
ENST00000646554.1:c.*1919T>C
|
ENSP00000494542.1:n.*1919T>C
|
|
|
ENST00000647335.1:c.*1908T>C
|
ENSP00000495180.1:n.*1908T>C
|
|
|
ENST00000647342.1:c.*1872T>C
|
ENSP00000494992.1:n.*1872T>C
|
|
|
ENST00000256216.10:c.1941T>C
|
ENSP00000256216.6:p.Asn647=
|
|
|
ENST00000414835.6:c.1521T>C
|
ENSP00000411960.2:p.Asn507=
|
|
|
ENST00000442060.7:c.*496T>C
|
ENSP00000390208.3:n.*496T>C
|
|
|
ENST00000504811.5:c.2016T>C
|
ENSP00000420914.1:p.Asn672=
|
|
|
ENST00000509514.5:c.1155T>C
|
ENSP00000426272.1:p.Asn385=
|
|
|
ENST00000509606.1:n.236T>C
|
|
|
|
ENST00000509951.5:n.309+1372T>C
|
|
|
|
ENST00000510025.5:c.1869T>C
|
ENSP00000424940.1:p.Asn623=
|
|
|
ENST00000513628.5:c.1530T>C
|
ENSP00000425993.1:p.Asn510=
|
|
|
ENST00000515235.6:n.3694T>C
|
|
|
|
ENST00000515320.5:c.1887T>C
|
ENSP00000424613.1:p.Asn629=
|
|
|
ENST00000522415.5:n.608T>C
|
|
|
|
NM_000414.3:c.1941T>C
|
NP_000405.1:p.Asn647=
|
|
|
NM_001199291.2:c.2016T>C
|
NP_001186220.1:p.Asn672=
|
|
|
NM_001199292.1:c.1887T>C
|
NP_001186221.1:p.Asn629=
|
|
|
NM_001292027.1:c.1869T>C
|
NP_001278956.1:p.Asn623=
|
|
|
NM_001292028.1:c.1521T>C
|
NP_001278957.1:p.Asn507=
|
|
|
NM_000414.4:c.1941T>C
MANE Select
|
NP_000405.1:p.Asn647=
|
|
|
NM_001199291.3:c.2016T>C
|
NP_001186220.1:p.Asn672=
|
|
|
NM_001199292.2:c.1887T>C
|
NP_001186221.1:p.Asn629=
|
|
|
NM_001292027.2:c.1869T>C
|
NP_001278956.1:p.Asn623=
|
|
|
NM_001292028.2:c.1521T>C
|
NP_001278957.1:p.Asn507=
|
|
|
NM_001374497.1:c.1932T>C
|
NP_001361426.1:p.Asn644=
|
|
|
NM_001374498.1:c.1869T>C
|
NP_001361427.1:p.Asn623=
|
|
|
NM_001374499.1:c.1614T>C
|
NP_001361428.1:p.Asn538=
|
|
|
NM_001374500.1:c.1500T>C
|
NP_001361429.1:p.Asn500=
|
|
|
NM_001374501.1:c.1530T>C
|
NP_001361430.1:p.Asn510=
|
|
|
NM_001374502.1:c.1530T>C
|
NP_001361431.1:p.Asn510=
|
|
|
NM_001374503.1:c.1530T>C
|
NP_001361432.1:p.Asn510=
|
|
|
NR_164653.1:n.2038T>C
|
|
|
|
NR_164654.1:n.2306T>C
|
|
|
