ENST00000486121.7:c.*410G>A
(GLA)
|
ENSP00000501124.2:n.*410G>A
|
|
ENST00000674127.2:c.*467G>A
(GLA)
|
ENSP00000501044.2:n.*467G>A
|
|
ENST00000710365.1:c.1039G>A
(GLA)
|
ENSP00000518234.1:p.Asp347Asn
|
|
ENST00000218516.4:c.964G>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Asp322Asn
|
|
ENST00000466414.2:n.1100G>A
(GLA)
|
|
|
ENST00000468823.2:n.2116G>A
(GLA)
|
|
|
ENST00000479445.2:n.1578G>A
(GLA)
|
|
|
ENST00000480513.6:c.*272G>A
(GLA)
|
ENSP00000497055.1:n.*272G>A
|
|
ENST00000486121.6:c.1009G>A
(GLA)
|
|
|
ENST00000649178.1:c.1087G>A
(GLA)
|
ENSP00000498186.1:p.Asp363Asn
|
|
ENST00000674127.1:c.1064G>A
(GLA)
|
ENSP00000501044.1:n.1064G>A
|
|
ENST00000674142.1:n.1268G>A
(GLA)
|
|
|
ENST00000674634.2:c.964G>A
(GLA)
|
ENSP00000502629.2:p.Asp322Asn
|
|
ENST00000675592.1:c.802-306G>A
(GLA)
|
ENSP00000502239.1:n.802-306G>A
|
|
ENST00000675799.1:c.*489G>A
(GLA)
|
ENSP00000502661.1:n.*489G>A
|
|
ENST00000675968.1:n.3835G>A
(GLA)
|
|
|
ENST00000676156.1:c.928G>A
(GLA)
|
ENSP00000501730.1:p.Asp310Asn
|
|
ENST00000676372.1:c.1030G>A
(GLA)
|
ENSP00000502805.1:n.1030G>A
|
|
ENST00000218516.3:c.964G>A
(GLA)
|
ENSP00000218516.3:p.Asp322Asn
|
|
ENST00000409170.3:c.300+2948C>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2948C>T
|
|
ENST00000409338.5:c.177+6583C>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6583C>T
|
|
ENST00000466414.1:n.290G>A
(GLA)
|
|
|
ENST00000493905.6:c.*352G>A
(GLA)
|
ENSP00000476935.1:n.*352G>A
|
|
NM_000169.2:c.964G>A , LRG_672t1:c.964G>A
(GLA)
|
NP_000160.1:p.Asp322Asn
|
|
NM_001199973.1:c.408+2948C>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2948C>T
|
|
NM_001199974.1:c.285+6583C>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6583C>T
|
|
XR_938397.1:n.1049G>A
(GLA)
|
|
|
XR_938397.2:n.1070G>A
(GLA)
|
|
|
NM_001199973.2:c.300+2948C>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2948C>T
|
|
NM_001199974.2:c.177+6583C>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6583C>T
|
|
NM_000169.3:c.964G>A
(GLA)
MANE Select
|
NP_000160.1:p.Asp322Asn
|
|
NR_164783.1:n.1043G>A
(GLA)
|
|
|