|
ENST00000674127.2:c.*695G>T
(GLA)
|
ENSP00000501044.2:n.*695G>T
|
|
|
ENST00000710365.1:c.1267G>T
(GLA)
|
ENSP00000518234.1:p.Glu423Ter
|
|
|
ENST00000218516.4:c.1192G>T
(GLA)
MANE Select
|
ENSP00000218516.4:p.Glu398Ter
|
|
|
ENST00000466414.2:n.1328G>T
(GLA)
|
|
|
|
ENST00000468823.2:n.2614G>T
(GLA)
|
|
|
|
ENST00000479445.2:n.1806G>T
(GLA)
|
|
|
|
ENST00000649178.1:c.1315G>T
(GLA)
|
ENSP00000498186.1:p.Glu439Ter
|
|
|
ENST00000674127.1:c.1292G>T
(GLA)
|
ENSP00000501044.1:n.1292G>T
|
|
|
ENST00000674142.1:n.1421+75G>T
(GLA)
|
|
|
|
ENST00000675592.1:c.994G>T
(GLA)
|
ENSP00000502239.1:p.Glu332Ter
|
|
|
ENST00000675799.1:c.*717G>T
(GLA)
|
ENSP00000502661.1:n.*717G>T
|
|
|
ENST00000675968.1:n.4063G>T
(GLA)
|
|
|
|
ENST00000676156.1:c.1156G>T
(GLA)
|
ENSP00000501730.1:p.Glu386Ter
|
|
|
ENST00000676372.1:c.1258G>T
(GLA)
|
ENSP00000502805.1:n.1258G>T
|
|
|
ENST00000218516.3:c.1192G>T
(GLA)
|
ENSP00000218516.3:p.Glu398Ter
|
|
|
ENST00000409170.3:c.300+2450C>A
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2450C>A
|
|
|
ENST00000409338.5:c.177+6085C>A
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6085C>A
|
|
|
ENST00000466414.1:n.518G>T
(GLA)
|
|
|
|
ENST00000493905.6:c.*580G>T
(GLA)
|
ENSP00000476935.1:n.*580G>T
|
|
|
NM_000169.2:c.1192G>T , LRG_672t1:c.1192G>T
(GLA)
|
NP_000160.1:p.Glu398Ter
|
|
|
NM_001199973.1:c.408+2450C>A
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2450C>A
|
|
|
NM_001199974.1:c.285+6085C>A
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6085C>A
|
|
|
XR_938397.1:n.1277G>T
(GLA)
|
|
|
|
XR_938397.2:n.1298G>T
(GLA)
|
|
|
|
NM_001199973.2:c.300+2450C>A
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2450C>A
|
|
|
NM_001199974.2:c.177+6085C>A
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6085C>A
|
|
|
NM_000169.3:c.1192G>T
(GLA)
MANE Select
|
NP_000160.1:p.Glu398Ter
|
|
|
NR_164783.1:n.1271G>T
(GLA)
|
|
|
