ENST00000486121.7:c.*374C>T
(GLA)
|
ENSP00000501124.2:n.*374C>T
|
|
ENST00000674127.2:c.*431C>T
(GLA)
|
ENSP00000501044.2:n.*431C>T
|
|
ENST00000710365.1:c.1003C>T
(GLA)
|
ENSP00000518234.1:p.Leu335Phe
|
|
ENST00000218516.4:c.928C>T
(GLA)
MANE Select
|
ENSP00000218516.4:p.Leu310Phe
|
|
ENST00000466414.2:n.1064C>T
(GLA)
|
|
|
ENST00000468823.2:n.2080C>T
(GLA)
|
|
|
ENST00000479445.2:n.1542C>T
(GLA)
|
|
|
ENST00000480513.6:c.*236C>T
(GLA)
|
ENSP00000497055.1:n.*236C>T
|
|
ENST00000486121.6:c.973C>T
(GLA)
|
|
|
ENST00000649178.1:c.1051C>T
(GLA)
|
ENSP00000498186.1:p.Leu351Phe
|
|
ENST00000674127.1:c.1028C>T
(GLA)
|
ENSP00000501044.1:n.1028C>T
|
|
ENST00000674142.1:n.1232C>T
(GLA)
|
|
|
ENST00000674634.2:c.928C>T
(GLA)
|
ENSP00000502629.2:p.Leu310Phe
|
|
ENST00000675592.1:c.802-342C>T
(GLA)
|
ENSP00000502239.1:n.802-342C>T
|
|
ENST00000675799.1:c.*453C>T
(GLA)
|
ENSP00000502661.1:n.*453C>T
|
|
ENST00000675968.1:n.3799C>T
(GLA)
|
|
|
ENST00000676156.1:c.892C>T
(GLA)
|
ENSP00000501730.1:p.Leu298Phe
|
|
ENST00000676372.1:c.994C>T
(GLA)
|
ENSP00000502805.1:n.994C>T
|
|
ENST00000218516.3:c.928C>T
(GLA)
|
ENSP00000218516.3:p.Leu310Phe
|
|
ENST00000409170.3:c.300+2984G>A
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2984G>A
|
|
ENST00000409338.5:c.177+6619G>A
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6619G>A
|
|
ENST00000466414.1:n.254C>T
(GLA)
|
|
|
ENST00000493905.6:c.*316C>T
(GLA)
|
ENSP00000476935.1:n.*316C>T
|
|
NM_000169.2:c.928C>T , LRG_672t1:c.928C>T
(GLA)
|
NP_000160.1:p.Leu310Phe
|
|
NM_001199973.1:c.408+2984G>A
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2984G>A
|
|
NM_001199974.1:c.285+6619G>A
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6619G>A
|
|
XR_938397.1:n.1013C>T
(GLA)
|
|
|
XR_938397.2:n.1034C>T
(GLA)
|
|
|
NM_001199973.2:c.300+2984G>A
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2984G>A
|
|
NM_001199974.2:c.177+6619G>A
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6619G>A
|
|
NM_000169.3:c.928C>T
(GLA)
MANE Select
|
NP_000160.1:p.Leu310Phe
|
|
NR_164783.1:n.1007C>T
(GLA)
|
|
|