|
ENST00000486121.7:c.*524G>C
(GLA)
|
ENSP00000501124.2:n.*524G>C
|
|
|
ENST00000674127.2:c.*581G>C
(GLA)
|
ENSP00000501044.2:n.*581G>C
|
|
|
ENST00000710365.1:c.1153G>C
(GLA)
|
ENSP00000518234.1:p.Gly385Arg
|
|
|
ENST00000218516.4:c.1078G>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Gly360Arg
|
|
|
ENST00000466414.2:n.1214G>C
(GLA)
|
|
|
|
ENST00000468823.2:n.2500G>C
(GLA)
|
|
|
|
ENST00000479445.2:n.1692G>C
(GLA)
|
|
|
|
ENST00000480513.6:c.*386G>C
(GLA)
|
ENSP00000497055.1:n.*386G>C
|
|
|
ENST00000486121.6:c.1123G>C
(GLA)
|
|
|
|
ENST00000649178.1:c.1201G>C
(GLA)
|
ENSP00000498186.1:p.Gly401Arg
|
|
|
ENST00000674127.1:c.1178G>C
(GLA)
|
ENSP00000501044.1:n.1178G>C
|
|
|
ENST00000674142.1:n.1382G>C
(GLA)
|
|
|
|
ENST00000675592.1:c.880G>C
(GLA)
|
ENSP00000502239.1:p.Gly294Arg
|
|
|
ENST00000675799.1:c.*603G>C
(GLA)
|
ENSP00000502661.1:n.*603G>C
|
|
|
ENST00000675968.1:n.3949G>C
(GLA)
|
|
|
|
ENST00000676156.1:c.1042G>C
(GLA)
|
ENSP00000501730.1:p.Gly348Arg
|
|
|
ENST00000676372.1:c.1144G>C
(GLA)
|
ENSP00000502805.1:n.1144G>C
|
|
|
ENST00000218516.3:c.1078G>C
(GLA)
|
ENSP00000218516.3:p.Gly360Arg
|
|
|
ENST00000409170.3:c.300+2564C>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2564C>G
|
|
|
ENST00000409338.5:c.177+6199C>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6199C>G
|
|
|
ENST00000466414.1:n.404G>C
(GLA)
|
|
|
|
ENST00000493905.6:c.*466G>C
(GLA)
|
ENSP00000476935.1:n.*466G>C
|
|
|
NM_000169.2:c.1078G>C , LRG_672t1:c.1078G>C
(GLA)
|
NP_000160.1:p.Gly360Arg
|
|
|
NM_001199973.1:c.408+2564C>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2564C>G
|
|
|
NM_001199974.1:c.285+6199C>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6199C>G
|
|
|
XR_938397.1:n.1163G>C
(GLA)
|
|
|
|
XR_938397.2:n.1184G>C
(GLA)
|
|
|
|
NM_001199973.2:c.300+2564C>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2564C>G
|
|
|
NM_001199974.2:c.177+6199C>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6199C>G
|
|
|
NM_000169.3:c.1078G>C
(GLA)
MANE Select
|
NP_000160.1:p.Gly360Arg
|
|
|
NR_164783.1:n.1157G>C
(GLA)
|
|
|
