ENST00000674127.2:c.*701A>C
(GLA)
|
ENSP00000501044.2:n.*701A>C
|
|
ENST00000710365.1:c.1273A>C
(GLA)
|
ENSP00000518234.1:p.Thr425Pro
|
|
ENST00000218516.4:c.1198A>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Thr400Pro
|
|
ENST00000466414.2:n.1334A>C
(GLA)
|
|
|
ENST00000468823.2:n.2620A>C
(GLA)
|
|
|
ENST00000479445.2:n.1812A>C
(GLA)
|
|
|
ENST00000649178.1:c.1321A>C
(GLA)
|
ENSP00000498186.1:p.Thr441Pro
|
|
ENST00000674127.1:c.1298A>C
(GLA)
|
ENSP00000501044.1:n.1298A>C
|
|
ENST00000674142.1:n.1421+81A>C
(GLA)
|
|
|
ENST00000675592.1:c.1000A>C
(GLA)
|
ENSP00000502239.1:p.Thr334Pro
|
|
ENST00000675799.1:c.*723A>C
(GLA)
|
ENSP00000502661.1:n.*723A>C
|
|
ENST00000675968.1:n.4069A>C
(GLA)
|
|
|
ENST00000676156.1:c.1162A>C
(GLA)
|
ENSP00000501730.1:p.Thr388Pro
|
|
ENST00000676372.1:c.1264A>C
(GLA)
|
ENSP00000502805.1:n.1264A>C
|
|
ENST00000218516.3:c.1198A>C
(GLA)
|
ENSP00000218516.3:p.Thr400Pro
|
|
ENST00000409170.3:c.300+2444T>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2444T>G
|
|
ENST00000409338.5:c.177+6079T>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6079T>G
|
|
ENST00000466414.1:n.524A>C
(GLA)
|
|
|
ENST00000493905.6:c.*586A>C
(GLA)
|
ENSP00000476935.1:n.*586A>C
|
|
NM_000169.2:c.1198A>C , LRG_672t1:c.1198A>C
(GLA)
|
NP_000160.1:p.Thr400Pro
|
|
NM_001199973.1:c.408+2444T>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2444T>G
|
|
NM_001199974.1:c.285+6079T>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6079T>G
|
|
XR_938397.1:n.1283A>C
(GLA)
|
|
|
XR_938397.2:n.1304A>C
(GLA)
|
|
|
NM_001199973.2:c.300+2444T>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2444T>G
|
|
NM_001199974.2:c.177+6079T>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6079T>G
|
|
NM_000169.3:c.1198A>C
(GLA)
MANE Select
|
NP_000160.1:p.Thr400Pro
|
|
NR_164783.1:n.1277A>C
(GLA)
|
|
|