ENST00000445653.6:n.1000G>T
|
|
|
ENST00000524658.2:n.981G>T
|
|
|
ENST00000530052.2:n.1987G>T
|
|
|
ENST00000682191.1:n.1447G>T
|
|
|
ENST00000682192.1:n.1144G>T
|
|
|
ENST00000682232.1:c.*623-230G>T
|
ENSP00000507302.1:n.*623-230G>T
|
|
ENST00000682326.1:c.918-230G>T
|
ENSP00000508129.1:n.918-230G>T
|
|
ENST00000682404.1:n.2043G>T
|
|
|
ENST00000682517.1:n.2346G>T
|
|
|
ENST00000682652.1:n.2216G>T
|
|
|
ENST00000682665.1:n.1642G>T
|
|
|
ENST00000682691.1:n.1642G>T
|
|
|
ENST00000682791.1:c.855G>T
|
ENSP00000507312.1:p.Leu285=
|
|
ENST00000682811.1:c.824G>T
|
ENSP00000508196.1:p.Trp275Leu
|
|
ENST00000682883.1:n.1032-230G>T
|
|
|
ENST00000682946.1:c.*24G>T
|
ENSP00000506856.1:n.*24G>T
|
|
ENST00000683143.1:c.*647G>T
|
ENSP00000507168.1:n.*647G>T
|
|
ENST00000683373.1:n.1447G>T
|
|
|
ENST00000683558.1:n.1447G>T
|
|
|
ENST00000683567.1:n.1051G>T
|
|
|
ENST00000683955.1:n.1698G>T
|
|
|
ENST00000684142.1:c.*617G>T
|
ENSP00000508008.1:n.*617G>T
|
|
ENST00000684252.1:n.1339G>T
|
|
|
ENST00000684255.1:c.*647G>T
|
ENSP00000507398.1:n.*647G>T
|
|
ENST00000684315.1:n.1675G>T
|
|
|
ENST00000684345.1:c.*920G>T
|
ENSP00000507163.1:n.*920G>T
|
|
ENST00000684499.1:c.*1047G>T
|
ENSP00000506800.1:n.*1047G>T
|
|
ENST00000684682.1:c.*673G>T
|
ENSP00000507326.1:n.*673G>T
|
|
ENST00000354202.9:c.942G>T
MANE Select
|
ENSP00000346142.4:p.Leu314=
|
|
ENST00000636404.1:c.233-464G>T
|
|
|
ENST00000638850.1:c.446G>T
|
|
|
ENST00000639704.1:c.849G>T
|
ENSP00000491336.1:p.Leu283=
|
|
ENST00000640102.1:c.*595G>T
|
ENSP00000492027.1:n.*595G>T
|
|
ENST00000640747.1:c.*617G>T
|
ENSP00000492730.1:n.*617G>T
|
|
ENST00000354202.8:c.942G>T
|
ENSP00000346142.4:p.Leu314=
|
|
ENST00000392834.7:c.*647G>T
|
ENSP00000376579.3:n.*647G>T
|
|
ENST00000409993.6:c.942G>T
|
ENSP00000386597.2:p.Leu314=
|
|
ENST00000414373.5:c.*475-230G>T
|
ENSP00000402019.1:n.*475-230G>T
|
|
ENST00000442480.1:c.674G>T
|
ENSP00000406591.1:p.Trp225Leu
|
|
ENST00000461999.1:n.1109G>T
|
|
|
ENST00000481084.5:n.1571G>T
|
|
|
ENST00000524658.1:n.247G>T
|
|
|
ENST00000525456.5:n.756G>T
|
|
|
NM_001382.3:c.942G>T
|
NP_001373.2:p.Leu314=
|
|
XM_005271422.2:c.942G>T
|
XP_005271479.1:p.Leu314=
|
|
XM_011542648.1:c.621G>T
|
XP_011540950.1:p.Leu207=
|
|
XR_947801.1:n.1165-230G>T
|
|
|
XM_005271422.3:c.942G>T
|
XP_005271479.1:p.Leu314=
|
|
XM_011542648.2:c.621G>T
|
XP_011540950.1:p.Leu207=
|
|
XM_017017293.2:c.621G>T
|
XP_016872782.1:p.Leu207=
|
|
XM_017017294.2:c.*24G>T
|
XP_016872783.1:n.*24G>T
|
|
XM_017017295.1:c.426G>T
|
XP_016872784.1:p.Leu142=
|
|
XR_001747785.2:n.976G>T
|
|
|
XR_947801.2:n.952-230G>T
|
|
|
NM_001382.4:c.942G>T
MANE Select
|
NP_001373.2:p.Leu314=
|
|