ENST00000674127.2:c.*688G>C
(GLA)
|
ENSP00000501044.2:n.*688G>C
|
|
ENST00000710365.1:c.1260G>C
(GLA)
|
ENSP00000518234.1:p.Gly420=
|
|
ENST00000218516.4:c.1185G>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Gly395=
|
|
ENST00000466414.2:n.1321G>C
(GLA)
|
|
|
ENST00000468823.2:n.2607G>C
(GLA)
|
|
|
ENST00000479445.2:n.1799G>C
(GLA)
|
|
|
ENST00000649178.1:c.1308G>C
(GLA)
|
ENSP00000498186.1:p.Gly436=
|
|
ENST00000674127.1:c.1285G>C
(GLA)
|
ENSP00000501044.1:n.1285G>C
|
|
ENST00000674142.1:n.1421+68G>C
(GLA)
|
|
|
ENST00000675592.1:c.987G>C
(GLA)
|
ENSP00000502239.1:p.Gly329=
|
|
ENST00000675799.1:c.*710G>C
(GLA)
|
ENSP00000502661.1:n.*710G>C
|
|
ENST00000675968.1:n.4056G>C
(GLA)
|
|
|
ENST00000676156.1:c.1149G>C
(GLA)
|
ENSP00000501730.1:p.Gly383=
|
|
ENST00000676372.1:c.1251G>C
(GLA)
|
ENSP00000502805.1:n.1251G>C
|
|
ENST00000218516.3:c.1185G>C
(GLA)
|
ENSP00000218516.3:p.Gly395=
|
|
ENST00000409170.3:c.300+2457C>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2457C>G
|
|
ENST00000409338.5:c.177+6092C>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6092C>G
|
|
ENST00000466414.1:n.511G>C
(GLA)
|
|
|
ENST00000493905.6:c.*573G>C
(GLA)
|
ENSP00000476935.1:n.*573G>C
|
|
NM_000169.2:c.1185G>C , LRG_672t1:c.1185G>C
(GLA)
|
NP_000160.1:p.Gly395=
|
|
NM_001199973.1:c.408+2457C>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2457C>G
|
|
NM_001199974.1:c.285+6092C>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6092C>G
|
|
XR_938397.1:n.1270G>C
(GLA)
|
|
|
XR_938397.2:n.1291G>C
(GLA)
|
|
|
NM_001199973.2:c.300+2457C>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2457C>G
|
|
NM_001199974.2:c.177+6092C>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6092C>G
|
|
NM_000169.3:c.1185G>C
(GLA)
MANE Select
|
NP_000160.1:p.Gly395=
|
|
NR_164783.1:n.1264G>C
(GLA)
|
|
|