ENST00000486121.7:c.*130T>A
(GLA)
|
ENSP00000501124.2:n.*130T>A
|
|
ENST00000674127.2:c.*187T>A
(GLA)
|
ENSP00000501044.2:n.*187T>A
|
|
ENST00000710365.1:c.759T>A
(GLA)
|
ENSP00000518234.1:p.Asn253Lys
|
|
ENST00000218516.4:c.684T>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Asn228Lys
|
|
ENST00000466414.2:n.603T>A
(GLA)
|
|
|
ENST00000468823.2:n.1619T>A
(GLA)
|
|
|
ENST00000479445.2:n.1081T>A
(GLA)
|
|
|
ENST00000480513.6:c.592T>A
(GLA)
|
ENSP00000497055.1:p.Phe198Ile
|
|
ENST00000486121.6:c.729T>A
(GLA)
|
|
|
ENST00000649178.1:c.807T>A
(GLA)
|
ENSP00000498186.1:p.Asn269Lys
|
|
ENST00000674127.1:c.784T>A
(GLA)
|
ENSP00000501044.1:n.784T>A
|
|
ENST00000674142.1:n.771T>A
(GLA)
|
|
|
ENST00000674634.2:c.684T>A
(GLA)
|
ENSP00000502629.2:p.Asn228Lys
|
|
ENST00000675592.1:c.684T>A
(GLA)
|
ENSP00000502239.1:p.Asn228Lys
|
|
ENST00000675799.1:c.592T>A
(GLA)
|
ENSP00000502661.1:p.Phe198Ile
|
|
ENST00000675968.1:n.3338T>A
(GLA)
|
|
|
ENST00000676156.1:c.648T>A
(GLA)
|
ENSP00000501730.1:p.Asn216Lys
|
|
ENST00000676372.1:c.684T>A
(GLA)
|
ENSP00000502805.1:p.Asn228Lys
|
|
ENST00000218516.3:c.684T>A
(GLA)
|
ENSP00000218516.3:p.Asn228Lys
|
|
ENST00000409170.3:c.300+3445A>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3445A>T
|
|
ENST00000409338.5:c.177+7080A>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+7080A>T
|
|
ENST00000468823.1:n.233T>A
(GLA)
|
|
|
ENST00000480513.5:n.522T>A
(GLA)
|
|
|
ENST00000493905.6:c.*72T>A
(GLA)
|
ENSP00000476935.1:n.*72T>A
|
|
NM_000169.2:c.684T>A , LRG_672t1:c.684T>A
(GLA)
|
NP_000160.1:p.Asn228Lys
|
|
NM_001199973.1:c.408+3445A>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3445A>T
|
|
NM_001199974.1:c.285+7080A>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+7080A>T
|
|
XR_938397.1:n.769T>A
(GLA)
|
|
|
XR_938397.2:n.790T>A
(GLA)
|
|
|
NM_001199973.2:c.300+3445A>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3445A>T
|
|
NM_001199974.2:c.177+7080A>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+7080A>T
|
|
NM_000169.3:c.684T>A
(GLA)
MANE Select
|
NP_000160.1:p.Asn228Lys
|
|
NR_164783.1:n.763T>A
(GLA)
|
|
|