|
ENST00000674127.2:c.*679G>T
(GLA)
|
ENSP00000501044.2:n.*679G>T
|
|
|
ENST00000710365.1:c.1251G>T
(GLA)
|
ENSP00000518234.1:p.Arg417Ser
|
|
|
ENST00000218516.4:c.1176G>T
(GLA)
MANE Select
|
ENSP00000218516.4:p.Arg392Ser
|
|
|
ENST00000466414.2:n.1312G>T
(GLA)
|
|
|
|
ENST00000468823.2:n.2598G>T
(GLA)
|
|
|
|
ENST00000479445.2:n.1790G>T
(GLA)
|
|
|
|
ENST00000649178.1:c.1299G>T
(GLA)
|
ENSP00000498186.1:p.Arg433Ser
|
|
|
ENST00000674127.1:c.1276G>T
(GLA)
|
ENSP00000501044.1:n.1276G>T
|
|
|
ENST00000674142.1:n.1421+59G>T
(GLA)
|
|
|
|
ENST00000675592.1:c.978G>T
(GLA)
|
ENSP00000502239.1:p.Arg326Ser
|
|
|
ENST00000675799.1:c.*701G>T
(GLA)
|
ENSP00000502661.1:n.*701G>T
|
|
|
ENST00000675968.1:n.4047G>T
(GLA)
|
|
|
|
ENST00000676156.1:c.1140G>T
(GLA)
|
ENSP00000501730.1:p.Arg380Ser
|
|
|
ENST00000676372.1:c.1242G>T
(GLA)
|
ENSP00000502805.1:n.1242G>T
|
|
|
ENST00000218516.3:c.1176G>T
(GLA)
|
ENSP00000218516.3:p.Arg392Ser
|
|
|
ENST00000409170.3:c.300+2466C>A
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2466C>A
|
|
|
ENST00000409338.5:c.177+6101C>A
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6101C>A
|
|
|
ENST00000466414.1:n.502G>T
(GLA)
|
|
|
|
ENST00000493905.6:c.*564G>T
(GLA)
|
ENSP00000476935.1:n.*564G>T
|
|
|
NM_000169.2:c.1176G>T , LRG_672t1:c.1176G>T
(GLA)
|
NP_000160.1:p.Arg392Ser
|
|
|
NM_001199973.1:c.408+2466C>A
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2466C>A
|
|
|
NM_001199974.1:c.285+6101C>A
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6101C>A
|
|
|
XR_938397.1:n.1261G>T
(GLA)
|
|
|
|
XR_938397.2:n.1282G>T
(GLA)
|
|
|
|
NM_001199973.2:c.300+2466C>A
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2466C>A
|
|
|
NM_001199974.2:c.177+6101C>A
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6101C>A
|
|
|
NM_000169.3:c.1176G>T
(GLA)
MANE Select
|
NP_000160.1:p.Arg392Ser
|
|
|
NR_164783.1:n.1255G>T
(GLA)
|
|
|
