|
ENST00000699112.1:c.1035G>A
|
ENSP00000514137.1:p.Trp345Ter
|
|
|
ENST00000699113.1:c.*753+20G>A
|
ENSP00000514138.1:n.*753+20G>A
|
|
|
ENST00000699114.1:n.1282G>A
|
|
|
|
ENST00000699115.1:c.1108+20G>A
|
ENSP00000514139.1:n.1108+20G>A
|
|
|
ENST00000699116.1:n.3354G>A
|
|
|
|
ENST00000699117.1:n.2047G>A
|
|
|
|
ENST00000699118.1:c.1008G>A
|
ENSP00000514140.1:p.Trp336Ter
|
|
|
ENST00000699119.1:c.*586G>A
|
ENSP00000514141.1:n.*586G>A
|
|
|
ENST00000699120.1:c.*853G>A
|
ENSP00000514142.1:n.*853G>A
|
|
|
ENST00000699121.1:c.*754G>A
|
ENSP00000514143.1:n.*754G>A
|
|
|
ENST00000699122.1:c.822G>A
|
ENSP00000514144.1:p.Trp274Ter
|
|
|
ENST00000699123.1:c.*1163G>A
|
ENSP00000514145.1:n.*1163G>A
|
|
|
ENST00000699124.1:n.2714G>A
|
|
|
|
ENST00000699125.1:c.1425G>A
|
ENSP00000514146.1:p.Trp475Ter
|
|
|
ENST00000699126.1:n.2867G>A
|
|
|
|
ENST00000699127.1:n.1638G>A
|
|
|
|
ENST00000699128.1:c.*514+20G>A
|
ENSP00000514147.1:n.*514+20G>A
|
|
|
ENST00000699129.1:c.*534G>A
|
ENSP00000514148.1:n.*534G>A
|
|
|
ENST00000699130.1:n.2768G>A
|
|
|
|
ENST00000699131.1:c.1227G>A
|
ENSP00000514149.1:p.Trp409Ter
|
|
|
ENST00000699132.1:n.3690G>A
|
|
|
|
ENST00000699133.1:c.1128G>A
|
ENSP00000514150.1:p.Trp376Ter
|
|
|
ENST00000699134.1:c.1653G>A
|
ENSP00000514151.1:p.Trp551Ter
|
|
|
ENST00000699135.1:c.*605G>A
|
ENSP00000514152.1:n.*605G>A
|
|
|
ENST00000699136.1:c.1296G>A
|
ENSP00000514153.1:p.Trp432Ter
|
|
|
ENST00000699137.1:c.1008G>A
|
ENSP00000514154.1:p.Trp336Ter
|
|
|
ENST00000699138.1:c.*853G>A
|
ENSP00000514155.1:n.*853G>A
|
|
|
ENST00000699139.1:c.1134G>A
|
ENSP00000514156.1:p.Trp378Ter
|
|
|
ENST00000699140.1:c.1296G>A
|
ENSP00000514157.1:p.Trp432Ter
|
|
|
ENST00000699141.1:c.*833+20G>A
|
ENSP00000514158.1:n.*833+20G>A
|
|
|
ENST00000699142.1:c.1395G>A
|
ENSP00000514159.1:p.Trp465Ter
|
|
|
ENST00000699143.1:c.*754G>A
|
ENSP00000514160.1:n.*754G>A
|
|
|
ENST00000699144.1:c.*853G>A
|
ENSP00000514161.1:n.*853G>A
|
|
|
ENST00000699145.1:c.1395G>A
|
ENSP00000514162.1:p.Trp465Ter
|
|
|
ENST00000699146.1:c.1395G>A
|
ENSP00000514164.1:p.Trp465Ter
|
|
|
ENST00000699147.1:c.*853G>A
|
ENSP00000514165.1:n.*853G>A
|
|
|
ENST00000699148.1:n.176G>A
|
|
|
|
ENST00000699159.1:c.*754G>A
|
ENSP00000514167.1:n.*754G>A
|
|
|
ENST00000361490.9:c.1395G>A
MANE Select
|
ENSP00000355310.4:p.Trp465Ter
|
|
|
ENST00000325103.10:c.1395G>A
|
ENSP00000326649.6:p.Trp465Ter
|
|
|
ENST00000359632.7:c.780G>A
|
ENSP00000352652.3:p.Trp260Ter
|
|
|
ENST00000361490.8:c.1395G>A
|
ENSP00000355310.4:p.Trp465Ter
|
|
|
ENST00000467246.5:n.1534G>A
|
|
|
|
ENST00000470095.5:n.612G>A
|
|
|
|
ENST00000478087.5:n.773G>A
|
|
|
|
ENST00000497527.1:n.526G>A
|
|
|
|
ENST00000613394.4:c.1395G>A
|
ENSP00000477926.1:p.Trp465Ter
|
|
|
NM_000195.3:c.1395G>A
|
NP_000186.2:p.Trp465Ter
|
|
|
NM_000195.4:c.1395G>A
|
NP_000186.2:p.Trp465Ter
|
|
|
NM_001311345.1:c.423G>A
|
NP_001298274.1:p.Trp141Ter
|
|
|
XM_005269755.2:c.1395G>A
|
XP_005269812.1:p.Trp465Ter
|
|
|
XM_005269756.2:c.1395G>A
|
XP_005269813.1:p.Trp465Ter
|
|
|
XM_005269757.3:c.1395G>A
|
XP_005269814.1:p.Trp465Ter
|
|
|
XM_005269758.1:c.1296G>A
|
XP_005269815.1:p.Trp432Ter
|
|
|
XM_005269759.1:c.1026G>A
|
XP_005269816.1:p.Trp342Ter
|
|
|
XM_005269760.3:c.423G>A
|
XP_005269817.1:p.Trp141Ter
|
|
|
XM_005269761.1:c.423G>A
|
XP_005269818.1:p.Trp141Ter
|
|
|
XM_006717818.1:c.1134G>A
|
XP_006717881.1:p.Trp378Ter
|
|
|
NM_001322476.1:c.1395G>A
|
NP_001309405.1:p.Trp465Ter
|
|
|
NM_001322477.1:c.1395G>A
|
NP_001309406.1:p.Trp465Ter
|
|
|
NM_001322478.1:c.1296G>A
|
NP_001309407.1:p.Trp432Ter
|
|
|
NM_001322479.1:c.1296G>A
|
NP_001309408.1:p.Trp432Ter
|
|
|
NM_001322480.1:c.1134G>A
|
NP_001309409.1:p.Trp378Ter
|
|
|
NM_001322481.1:c.1134G>A
|
NP_001309410.1:p.Trp378Ter
|
|
|
NM_001322482.1:c.1035G>A
|
NP_001309411.1:p.Trp345Ter
|
|
|
NM_001322483.1:c.1026G>A
|
NP_001309412.1:p.Trp342Ter
|
|
|
NM_001322484.1:c.1026G>A
|
NP_001309413.1:p.Trp342Ter
|
|
|
NM_001322485.1:c.927G>A
|
NP_001309414.1:p.Trp309Ter
|
|
|
NM_001322487.1:c.423G>A
|
NP_001309416.1:p.Trp141Ter
|
|
|
NM_001322489.1:c.423G>A
|
NP_001309418.1:p.Trp141Ter
|
|
|
XM_005269757.4:c.1395G>A
|
XP_005269814.1:p.Trp465Ter
|
|
|
XM_017016170.1:c.1035G>A
|
XP_016871659.1:p.Trp345Ter
|
|
|
XM_017016171.2:c.927G>A
|
XP_016871660.1:p.Trp309Ter
|
|
|
XM_017016172.2:c.423G>A
|
XP_016871661.1:p.Trp141Ter
|
|
|
XM_024447971.1:c.1425G>A
|
XP_024303739.1:p.Trp475Ter
|
|
|
XM_024447972.1:c.423G>A
|
XP_024303740.1:p.Trp141Ter
|
|
|
XR_001747098.1:n.1664G>A
|
|
|
|
XR_001747099.2:n.1644+20G>A
|
|
|
|
XR_001747100.2:n.1644+20G>A
|
|
|
|
XR_001747101.2:n.1545+20G>A
|
|
|
|
NM_000195.5:c.1395G>A
MANE Select
|
NP_000186.2:p.Trp465Ter
|
|
|
NM_001311345.2:c.423G>A
|
NP_001298274.1:p.Trp141Ter
|
|
|
NM_001322476.2:c.1395G>A
|
NP_001309405.1:p.Trp465Ter
|
|
|
NM_001322477.2:c.1395G>A
|
NP_001309406.1:p.Trp465Ter
|
|
|
NM_001322478.2:c.1296G>A
|
NP_001309407.1:p.Trp432Ter
|
|
|
NM_001322479.2:c.1296G>A
|
NP_001309408.1:p.Trp432Ter
|
|
|
NM_001322480.2:c.1134G>A
|
NP_001309409.1:p.Trp378Ter
|
|
|
NM_001322481.2:c.1134G>A
|
NP_001309410.1:p.Trp378Ter
|
|
|
NM_001322482.2:c.1035G>A
|
NP_001309411.1:p.Trp345Ter
|
|
|
NM_001322483.2:c.1026G>A
|
NP_001309412.1:p.Trp342Ter
|
|
|
NM_001322484.2:c.1026G>A
|
NP_001309413.1:p.Trp342Ter
|
|
|
NM_001322485.2:c.927G>A
|
NP_001309414.1:p.Trp309Ter
|
|
|
NM_001322487.2:c.423G>A
|
NP_001309416.1:p.Trp141Ter
|
|
|
NM_001322489.2:c.423G>A
|
NP_001309418.1:p.Trp141Ter
|
|
