ENST00000486121.7:c.*186C>G
(GLA)
|
ENSP00000501124.2:n.*186C>G
|
|
ENST00000674127.2:c.*243C>G
(GLA)
|
ENSP00000501044.2:n.*243C>G
|
|
ENST00000710365.1:c.815C>G
(GLA)
|
ENSP00000518234.1:p.Ser272Cys
|
|
ENST00000218516.4:c.740C>G
(GLA)
MANE Select
|
ENSP00000218516.4:p.Ser247Cys
|
|
ENST00000466414.2:n.659C>G
(GLA)
|
|
|
ENST00000468823.2:n.1675C>G
(GLA)
|
|
|
ENST00000479445.2:n.1137C>G
(GLA)
|
|
|
ENST00000480513.6:c.*48C>G
(GLA)
|
ENSP00000497055.1:n.*48C>G
|
|
ENST00000486121.6:c.785C>G
(GLA)
|
|
|
ENST00000649178.1:c.863C>G
(GLA)
|
ENSP00000498186.1:p.Ser288Cys
|
|
ENST00000674127.1:c.840C>G
(GLA)
|
ENSP00000501044.1:n.840C>G
|
|
ENST00000674142.1:n.827C>G
(GLA)
|
|
|
ENST00000674634.2:c.740C>G
(GLA)
|
ENSP00000502629.2:p.Ser247Cys
|
|
ENST00000675592.1:c.740C>G
(GLA)
|
ENSP00000502239.1:p.Ser247Cys
|
|
ENST00000675799.1:c.*48C>G
(GLA)
|
ENSP00000502661.1:n.*48C>G
|
|
ENST00000675968.1:n.3394C>G
(GLA)
|
|
|
ENST00000676156.1:c.704C>G
(GLA)
|
ENSP00000501730.1:p.Ser235Cys
|
|
ENST00000676372.1:c.740C>G
(GLA)
|
ENSP00000502805.1:p.Ser247Cys
|
|
ENST00000218516.3:c.740C>G
(GLA)
|
ENSP00000218516.3:p.Ser247Cys
|
|
ENST00000409170.3:c.300+3389G>C
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3389G>C
|
|
ENST00000409338.5:c.177+7024G>C
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+7024G>C
|
|
ENST00000468823.1:n.289C>G
(GLA)
|
|
|
ENST00000480513.5:n.578C>G
(GLA)
|
|
|
ENST00000493905.6:c.*128C>G
(GLA)
|
ENSP00000476935.1:n.*128C>G
|
|
NM_000169.2:c.740C>G , LRG_672t1:c.740C>G
(GLA)
|
NP_000160.1:p.Ser247Cys
|
|
NM_001199973.1:c.408+3389G>C
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3389G>C
|
|
NM_001199974.1:c.285+7024G>C
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+7024G>C
|
|
XR_938397.1:n.825C>G
(GLA)
|
|
|
XR_938397.2:n.846C>G
(GLA)
|
|
|
NM_001199973.2:c.300+3389G>C
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3389G>C
|
|
NM_001199974.2:c.177+7024G>C
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+7024G>C
|
|
NM_000169.3:c.740C>G
(GLA)
MANE Select
|
NP_000160.1:p.Ser247Cys
|
|
NR_164783.1:n.819C>G
(GLA)
|
|
|