|
NM_000169.3:c.848A>G
(GLA)
MANE Select
|
NP_000160.1:p.Gln283Arg
|
|
ENST00000218516.4:c.848A>G
(GLA)
MANE Select
|
ENSP00000218516.4:p.Gln283Arg
|
|
NM_000169.2:c.848A>G , LRG_672t1:c.848A>G
(GLA)
|
NP_000160.1:p.Gln283Arg
|
|
NM_001199973.1:c.408+3064T>C
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3064T>C
|
|
NM_001199973.2:c.300+3064T>C
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3064T>C
|
|
NM_001199974.1:c.285+6699T>C
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6699T>C
|
|
NM_001199974.2:c.177+6699T>C
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6699T>C
|
|
NR_164783.1:n.927A>G
(GLA)
|
|
|
ENST00000218516.3:c.848A>G
(GLA)
|
ENSP00000218516.3:p.Gln283Arg
|
|
ENST00000409170.3:c.300+3064T>C
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3064T>C
|
|
ENST00000409338.5:c.177+6699T>C
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6699T>C
|
|
ENST00000466414.1:n.174A>G
(GLA)
|
|
|
ENST00000466414.2:n.984A>G
(GLA)
|
|
|
ENST00000468823.1:n.614A>G
(GLA)
|
|
|
ENST00000468823.2:n.2000A>G
(GLA)
|
|
|
ENST00000479445.2:n.1462A>G
(GLA)
|
|
|
ENST00000480513.6:c.*156A>G
(GLA)
|
ENSP00000497055.1:n.*156A>G
|
|
ENST00000486121.6:c.893A>G
(GLA)
|
|
|
ENST00000486121.7:c.*294A>G
(GLA)
|
ENSP00000501124.2:n.*294A>G
|
|
ENST00000493905.6:c.*236A>G
(GLA)
|
ENSP00000476935.1:n.*236A>G
|
|
ENST00000649178.1:c.971A>G
(GLA)
|
ENSP00000498186.1:p.Gln324Arg
|
|
ENST00000674127.1:c.948A>G
(GLA)
|
ENSP00000501044.1:n.948A>G
|
|
ENST00000674127.2:c.*351A>G
(GLA)
|
ENSP00000501044.2:n.*351A>G
|
|
ENST00000674142.1:n.1152A>G
(GLA)
|
|
|
ENST00000674634.2:c.848A>G
(GLA)
|
ENSP00000502629.2:p.Gln283Arg
|
|
ENST00000675592.1:c.801+264A>G
(GLA)
|
ENSP00000502239.1:n.801+264A>G
|
|
ENST00000675799.1:c.*373A>G
(GLA)
|
ENSP00000502661.1:n.*373A>G
|
|
ENST00000675968.1:n.3719A>G
(GLA)
|
|
|
ENST00000676156.1:c.812A>G
(GLA)
|
ENSP00000501730.1:p.Gln271Arg
|
|
ENST00000676372.1:c.914A>G
(GLA)
|
ENSP00000502805.1:n.914A>G
|
|
ENST00000710365.1:c.923A>G
(GLA)
|
ENSP00000518234.1:p.Gln308Arg
|
|
XR_938397.1:n.933A>G
(GLA)
|
|
|
XR_938397.2:n.954A>G
(GLA)
|
|