ENST00000486121.7:c.*263T>C
(GLA)
|
ENSP00000501124.2:n.*263T>C
|
|
ENST00000674127.2:c.*320T>C
(GLA)
|
ENSP00000501044.2:n.*320T>C
|
|
ENST00000710365.1:c.892T>C
(GLA)
|
ENSP00000518234.1:p.Phe298Leu
|
|
ENST00000218516.4:c.817T>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Phe273Leu
|
|
ENST00000466414.2:n.953T>C
(GLA)
|
|
|
ENST00000468823.2:n.1969T>C
(GLA)
|
|
|
ENST00000479445.2:n.1431T>C
(GLA)
|
|
|
ENST00000480513.6:c.*125T>C
(GLA)
|
ENSP00000497055.1:n.*125T>C
|
|
ENST00000486121.6:c.862T>C
(GLA)
|
|
|
ENST00000649178.1:c.940T>C
(GLA)
|
ENSP00000498186.1:p.Phe314Leu
|
|
ENST00000674127.1:c.917T>C
(GLA)
|
ENSP00000501044.1:n.917T>C
|
|
ENST00000674142.1:n.1121T>C
(GLA)
|
|
|
ENST00000674634.2:c.817T>C
(GLA)
|
ENSP00000502629.2:p.Phe273Leu
|
|
ENST00000675592.1:c.801+233T>C
(GLA)
|
ENSP00000502239.1:n.801+233T>C
|
|
ENST00000675799.1:c.*342T>C
(GLA)
|
ENSP00000502661.1:n.*342T>C
|
|
ENST00000675968.1:n.3688T>C
(GLA)
|
|
|
ENST00000676156.1:c.781T>C
(GLA)
|
ENSP00000501730.1:p.Phe261Leu
|
|
ENST00000676372.1:c.883T>C
(GLA)
|
ENSP00000502805.1:n.883T>C
|
|
ENST00000218516.3:c.817T>C
(GLA)
|
ENSP00000218516.3:p.Phe273Leu
|
|
ENST00000409170.3:c.300+3095A>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3095A>G
|
|
ENST00000409338.5:c.177+6730A>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6730A>G
|
|
ENST00000466414.1:n.143T>C
(GLA)
|
|
|
ENST00000468823.1:n.583T>C
(GLA)
|
|
|
ENST00000493905.6:c.*205T>C
(GLA)
|
ENSP00000476935.1:n.*205T>C
|
|
NM_000169.2:c.817T>C , LRG_672t1:c.817T>C
(GLA)
|
NP_000160.1:p.Phe273Leu
|
|
NM_001199973.1:c.408+3095A>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3095A>G
|
|
NM_001199974.1:c.285+6730A>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6730A>G
|
|
XR_938397.1:n.902T>C
(GLA)
|
|
|
XR_938397.2:n.923T>C
(GLA)
|
|
|
NM_001199973.2:c.300+3095A>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3095A>G
|
|
NM_001199974.2:c.177+6730A>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6730A>G
|
|
NM_000169.3:c.817T>C
(GLA)
MANE Select
|
NP_000160.1:p.Phe273Leu
|
|
NR_164783.1:n.896T>C
(GLA)
|
|
|