ENST00000674127.2:c.*778A>G
(GLA)
|
ENSP00000501044.2:n.*778A>G
|
|
ENST00000710365.1:c.1350A>G
(GLA)
|
ENSP00000518234.1:p.Leu450=
|
|
ENST00000218516.4:c.1275A>G
(GLA)
MANE Select
|
ENSP00000218516.4:p.Leu425=
|
|
ENST00000466414.2:n.1411A>G
(GLA)
|
|
|
ENST00000468823.2:n.2697A>G
(GLA)
|
|
|
ENST00000479445.2:n.1889A>G
(GLA)
|
|
|
ENST00000649178.1:c.1398A>G
(GLA)
|
ENSP00000498186.1:p.Leu466=
|
|
ENST00000674127.1:c.1375A>G
(GLA)
|
ENSP00000501044.1:n.1375A>G
|
|
ENST00000674142.1:n.1421+158A>G
(GLA)
|
|
|
ENST00000675592.1:c.1077A>G
(GLA)
|
ENSP00000502239.1:p.Leu359=
|
|
ENST00000675968.1:n.4146A>G
(GLA)
|
|
|
ENST00000676156.1:c.1239A>G
(GLA)
|
ENSP00000501730.1:p.Leu413=
|
|
ENST00000676372.1:c.1341A>G
(GLA)
|
ENSP00000502805.1:n.1341A>G
|
|
ENST00000218516.3:c.1275A>G
(GLA)
|
ENSP00000218516.3:p.Leu425=
|
|
ENST00000409170.3:c.300+2367T>C
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2367T>C
|
|
ENST00000409338.5:c.177+6002T>C
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6002T>C
|
|
ENST00000466414.1:n.601A>G
(GLA)
|
|
|
ENST00000493905.6:c.*663A>G
(GLA)
|
ENSP00000476935.1:n.*663A>G
|
|
NM_000169.2:c.1275A>G , LRG_672t1:c.1275A>G
(GLA)
|
NP_000160.1:p.Leu425=
|
|
NM_001199973.1:c.408+2367T>C
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2367T>C
|
|
NM_001199974.1:c.285+6002T>C
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6002T>C
|
|
XR_938397.1:n.1360A>G
(GLA)
|
|
|
XR_938397.2:n.1381A>G
(GLA)
|
|
|
NM_001199973.2:c.300+2367T>C
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2367T>C
|
|
NM_001199974.2:c.177+6002T>C
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6002T>C
|
|
NM_000169.3:c.1275A>G
(GLA)
MANE Select
|
NP_000160.1:p.Leu425=
|
|
NR_164783.1:n.1354A>G
(GLA)
|
|
|