|
ENST00000366601.8:c.932T>A
|
ENSP00000355560.4:p.Leu311His
|
|
|
ENST00000406207.5:c.1121T>A
|
ENSP00000384571.1:p.Leu374His
|
|
|
ENST00000472011.6:n.1845T>A
|
|
|
|
ENST00000543662.4:c.1274T>A
|
ENSP00000439170.1:p.Leu425His
|
|
|
ENST00000642339.1:c.*818T>A
|
ENSP00000495425.1:n.*818T>A
|
|
|
ENST00000642431.1:c.1698T>A
|
|
|
|
ENST00000642463.1:c.*1019T>A
|
ENSP00000495007.1:n.*1019T>A
|
|
|
ENST00000642503.1:c.*895T>A
|
ENSP00000494334.1:n.*895T>A
|
|
|
ENST00000642610.2:c.1121T>A
MANE Select
|
ENSP00000494796.1:p.Leu374His
|
|
|
ENST00000642764.1:n.1952T>A
|
|
|
|
ENST00000643125.1:c.*136T>A
|
ENSP00000494102.1:n.*136T>A
|
|
|
ENST00000643142.1:c.*612T>A
|
ENSP00000494755.1:n.*612T>A
|
|
|
ENST00000643238.1:c.*141T>A
|
ENSP00000495916.1:n.*141T>A
|
|
|
ENST00000643410.1:c.*411T>A
|
ENSP00000495030.1:n.*411T>A
|
|
|
ENST00000643487.1:n.1808T>A
|
|
|
|
ENST00000643524.1:c.*706T>A
|
ENSP00000494026.1:n.*706T>A
|
|
|
ENST00000643615.1:c.*1116+1299T>A
|
ENSP00000496103.1:n.*1116+1299T>A
|
|
|
ENST00000643993.1:n.1257T>A
|
|
|
|
ENST00000643994.1:c.*1121T>A
|
ENSP00000496322.1:n.*1121T>A
|
|
|
ENST00000644037.1:c.*1331T>A
|
ENSP00000496408.1:n.*1331T>A
|
|
|
ENST00000644055.1:c.*1746T>A
|
ENSP00000496307.1:n.*1746T>A
|
|
|
ENST00000644126.1:n.2793T>A
|
|
|
|
ENST00000644217.1:c.1121T>A
|
ENSP00000494646.1:p.Leu374His
|
|
|
ENST00000644265.1:c.490T>A
|
|
|
|
ENST00000644578.1:c.935T>A
|
ENSP00000495953.1:p.Leu312His
|
|
|
ENST00000644604.1:c.1121T>A
|
ENSP00000495961.1:p.Leu374His
|
|
|
ENST00000644680.1:c.*1642T>A
|
ENSP00000496173.1:n.*1642T>A
|
|
|
ENST00000644838.1:c.*504T>A
|
ENSP00000495910.1:n.*504T>A
|
|
|
ENST00000644910.1:c.1728T>A
|
|
|
|
ENST00000645205.1:c.1121T>A
|
ENSP00000495823.1:p.Leu374His
|
|
|
ENST00000645351.1:c.1121T>A
|
ENSP00000494319.1:p.Leu374His
|
|
|
ENST00000645551.1:c.*838T>A
|
ENSP00000495928.1:n.*838T>A
|
|
|
ENST00000645578.1:c.*895T>A
|
ENSP00000496495.1:n.*895T>A
|
|
|
ENST00000645582.1:c.*951T>A
|
ENSP00000494980.1:n.*951T>A
|
|
|
ENST00000645655.1:c.1121T>A
|
ENSP00000495202.1:p.Leu374His
|
|
|
ENST00000645662.1:c.*580T>A
|
ENSP00000495964.1:n.*580T>A
|
|
|
ENST00000645836.1:c.*895T>A
|
ENSP00000493915.1:n.*895T>A
|
|
|
ENST00000645899.1:c.1121T>A
|
ENSP00000496773.1:p.Leu374His
|
|
|
ENST00000645964.1:c.*987T>A
|
ENSP00000494208.1:n.*987T>A
|
|
|
ENST00000646104.1:c.*1589T>A
|
ENSP00000495475.1:n.*1589T>A
|
|
|
ENST00000646186.1:c.*793T>A
|
ENSP00000493806.1:n.*793T>A
|
|
|
ENST00000646286.1:c.*1014T>A
|
ENSP00000494291.1:n.*1014T>A
|
|
|
ENST00000646463.1:c.*886T>A
|
ENSP00000494541.1:n.*886T>A
|
|
|
ENST00000646528.1:c.*1837T>A
|
ENSP00000496553.1:n.*1837T>A
|
|
|
ENST00000646536.1:c.*411T>A
|
ENSP00000494801.1:n.*411T>A
|
|
|
ENST00000646624.1:c.1121T>A
|
ENSP00000494575.1:p.Leu374His
|
|
|
ENST00000646821.1:c.*411T>A
|
ENSP00000495257.1:n.*411T>A
|
|
|
ENST00000646842.1:n.565T>A
|
|
|
|
ENST00000646848.1:c.*336T>A
|
ENSP00000495831.1:n.*336T>A
|
|
|
ENST00000647186.1:c.1121T>A
|
ENSP00000494775.1:p.Leu374His
|
|
|
ENST00000647233.1:n.2101T>A
|
|
|
|
ENST00000647322.1:c.712T>A
|
|
|
|
ENST00000647418.1:c.*895T>A
|
ENSP00000493552.1:n.*895T>A
|
|
|
ENST00000647428.1:c.782T>A
|
ENSP00000495630.1:p.Leu261His
|
|
|
ENST00000651186.1:c.782T>A
|
ENSP00000498645.1:p.Leu261His
|
|
|
ENST00000366601.7:c.1121T>A
|
ENSP00000355560.3:p.Leu374His
|
|
|
ENST00000406207.4:c.1121T>A
|
ENSP00000384571.1:p.Leu374His
|
|
|
ENST00000472011.5:n.1173T>A
|
|
|
|
ENST00000543662.3:c.1274T>A
|
ENSP00000439170.1:p.Leu425His
|
|
|
NM_001079515.2:c.1121T>A
|
NP_001072983.1:p.Leu374His
|
|
|
NM_001287801.1:c.1274T>A
|
NP_001274730.1:p.Leu425His
|
|
|
NM_001287802.1:c.782T>A
|
NP_001274731.1:p.Leu261His
|
|
|
NM_003193.4:c.1121T>A
|
NP_003184.1:p.Leu374His
|
|
|
NM_003193.5:c.1121T>A
MANE Select
|
NP_003184.1:p.Leu374His
|
|
|
NM_001079515.3:c.1121T>A
|
NP_001072983.1:p.Leu374His
|
|
|
NM_001287801.2:c.1274T>A
|
NP_001274730.1:p.Leu425His
|
|
|
NM_001287802.2:c.782T>A
|
NP_001274731.1:p.Leu261His
|
|
