|
ENST00000509514.6:c.1906A>C
|
ENSP00000426272.2:p.Asn636His
|
|
|
ENST00000518349.6:c.1219A>C
|
ENSP00000507185.1:p.Asn407His
|
|
|
ENST00000682445.1:c.*1856A>C
|
ENSP00000508061.1:n.*1856A>C
|
|
|
ENST00000682531.1:n.3867A>C
|
|
|
|
ENST00000682626.1:c.*1481A>C
|
ENSP00000507857.1:n.*1481A>C
|
|
|
ENST00000682996.1:c.1903A>C
|
ENSP00000507792.1:p.Asn635His
|
|
|
ENST00000683265.1:n.3761A>C
|
|
|
|
ENST00000683335.1:n.3377A>C
|
|
|
|
ENST00000683371.1:c.*2105A>C
|
ENSP00000508376.1:n.*2105A>C
|
|
|
ENST00000683372.1:n.3985A>C
|
|
|
|
ENST00000683390.1:n.3665A>C
|
|
|
|
ENST00000683476.1:n.817A>C
|
|
|
|
ENST00000683549.1:n.3589A>C
|
|
|
|
ENST00000683936.1:c.*3553A>C
|
ENSP00000507721.1:n.*3553A>C
|
|
|
ENST00000683974.1:n.3704A>C
|
|
|
|
ENST00000683996.1:c.*1185A>C
|
ENSP00000507060.1:n.*1185A>C
|
|
|
ENST00000684131.1:n.3507A>C
|
|
|
|
ENST00000684160.1:c.*1665A>C
|
ENSP00000507821.1:n.*1665A>C
|
|
|
ENST00000684214.1:c.1854+1406A>C
|
ENSP00000508071.1:n.1854+1406A>C
|
|
|
ENST00000414835.7:c.2050A>C
|
ENSP00000411960.3:p.Asn684His
|
|
|
ENST00000510025.7:c.1975A>C
MANE Select
|
ENSP00000424940.3:p.Asn659His
|
|
|
ENST00000643250.1:c.*1847A>C
|
ENSP00000494737.1:n.*1847A>C
|
|
|
ENST00000644146.1:c.*3246A>C
|
ENSP00000494808.1:n.*3246A>C
|
|
|
ENST00000645099.1:c.1534A>C
|
ENSP00000496091.1:p.Asn512His
|
|
|
ENST00000645702.1:c.*1378A>C
|
ENSP00000496432.1:n.*1378A>C
|
|
|
ENST00000645832.1:c.*1860A>C
|
ENSP00000494316.1:n.*1860A>C
|
|
|
ENST00000646058.1:c.1975A>C
|
ENSP00000493579.1:p.Asn659His
|
|
|
ENST00000646355.1:c.*1981A>C
|
ENSP00000493801.1:n.*1981A>C
|
|
|
ENST00000646554.1:c.*1953A>C
|
ENSP00000494542.1:n.*1953A>C
|
|
|
ENST00000647335.1:c.*1942A>C
|
ENSP00000495180.1:n.*1942A>C
|
|
|
ENST00000647342.1:c.*1906A>C
|
ENSP00000494992.1:n.*1906A>C
|
|
|
ENST00000256216.10:c.1975A>C
|
ENSP00000256216.6:p.Asn659His
|
|
|
ENST00000414835.6:c.1555A>C
|
ENSP00000411960.2:p.Asn519His
|
|
|
ENST00000442060.7:c.*530A>C
|
ENSP00000390208.3:n.*530A>C
|
|
|
ENST00000504811.5:c.2050A>C
|
ENSP00000420914.1:p.Asn684His
|
|
|
ENST00000509514.5:c.1189A>C
|
ENSP00000426272.1:p.Asn397His
|
|
|
ENST00000509606.1:n.270A>C
|
|
|
|
ENST00000509951.5:n.309+1406A>C
|
|
|
|
ENST00000510025.5:c.1903A>C
|
ENSP00000424940.1:p.Asn635His
|
|
|
ENST00000513628.5:c.1564A>C
|
ENSP00000425993.1:p.Asn522His
|
|
|
ENST00000515235.6:n.3728A>C
|
|
|
|
ENST00000515320.5:c.1921A>C
|
ENSP00000424613.1:p.Asn641His
|
|
|
ENST00000522415.5:n.642A>C
|
|
|
|
NM_000414.3:c.1975A>C
|
NP_000405.1:p.Asn659His
|
|
|
NM_001199291.2:c.2050A>C
|
NP_001186220.1:p.Asn684His
|
|
|
NM_001199292.1:c.1921A>C
|
NP_001186221.1:p.Asn641His
|
|
|
NM_001292027.1:c.1903A>C
|
NP_001278956.1:p.Asn635His
|
|
|
NM_001292028.1:c.1555A>C
|
NP_001278957.1:p.Asn519His
|
|
|
NM_000414.4:c.1975A>C
MANE Select
|
NP_000405.1:p.Asn659His
|
|
|
NM_001199291.3:c.2050A>C
|
NP_001186220.1:p.Asn684His
|
|
|
NM_001199292.2:c.1921A>C
|
NP_001186221.1:p.Asn641His
|
|
|
NM_001292027.2:c.1903A>C
|
NP_001278956.1:p.Asn635His
|
|
|
NM_001292028.2:c.1555A>C
|
NP_001278957.1:p.Asn519His
|
|
|
NM_001374497.1:c.1966A>C
|
NP_001361426.1:p.Asn656His
|
|
|
NM_001374498.1:c.1903A>C
|
NP_001361427.1:p.Asn635His
|
|
|
NM_001374499.1:c.1648A>C
|
NP_001361428.1:p.Asn550His
|
|
|
NM_001374500.1:c.1534A>C
|
NP_001361429.1:p.Asn512His
|
|
|
NM_001374501.1:c.1564A>C
|
NP_001361430.1:p.Asn522His
|
|
|
NM_001374502.1:c.1564A>C
|
NP_001361431.1:p.Asn522His
|
|
|
NM_001374503.1:c.1564A>C
|
NP_001361432.1:p.Asn522His
|
|
|
NR_164653.1:n.2072A>C
|
|
|
|
NR_164654.1:n.2340A>C
|
|
|
