|
NM_000169.3:c.1154C>A
(GLA)
MANE Select
|
NP_000160.1:p.Thr385Lys
|
|
ENST00000218516.4:c.1154C>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Thr385Lys
|
|
NM_000169.2:c.1154C>A , LRG_672t1:c.1154C>A
(GLA)
|
NP_000160.1:p.Thr385Lys
|
|
NM_001199973.1:c.408+2488G>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2488G>T
|
|
NM_001199973.2:c.300+2488G>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2488G>T
|
|
NM_001199974.1:c.285+6123G>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6123G>T
|
|
NM_001199974.2:c.177+6123G>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6123G>T
|
|
NR_164783.1:n.1233C>A
(GLA)
|
|
|
ENST00000218516.3:c.1154C>A
(GLA)
|
ENSP00000218516.3:p.Thr385Lys
|
|
ENST00000409170.3:c.300+2488G>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2488G>T
|
|
ENST00000409338.5:c.177+6123G>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6123G>T
|
|
ENST00000466414.1:n.480C>A
(GLA)
|
|
|
ENST00000466414.2:n.1290C>A
(GLA)
|
|
|
ENST00000468823.2:n.2576C>A
(GLA)
|
|
|
ENST00000479445.2:n.1768C>A
(GLA)
|
|
|
ENST00000480513.6:c.*462C>A
(GLA)
|
ENSP00000497055.1:n.*462C>A
|
|
ENST00000486121.6:c.1199C>A
(GLA)
|
|
|
ENST00000486121.7:c.*600C>A
(GLA)
|
ENSP00000501124.2:n.*600C>A
|
|
ENST00000493905.6:c.*542C>A
(GLA)
|
ENSP00000476935.1:n.*542C>A
|
|
ENST00000649178.1:c.1277C>A
(GLA)
|
ENSP00000498186.1:p.Thr426Lys
|
|
ENST00000674127.1:c.1254C>A
(GLA)
|
ENSP00000501044.1:n.1254C>A
|
|
ENST00000674127.2:c.*657C>A
(GLA)
|
ENSP00000501044.2:n.*657C>A
|
|
ENST00000674142.1:n.1421+37C>A
(GLA)
|
|
|
ENST00000675592.1:c.956C>A
(GLA)
|
ENSP00000502239.1:p.Thr319Lys
|
|
ENST00000675799.1:c.*679C>A
(GLA)
|
ENSP00000502661.1:n.*679C>A
|
|
ENST00000675968.1:n.4025C>A
(GLA)
|
|
|
ENST00000676156.1:c.1118C>A
(GLA)
|
ENSP00000501730.1:p.Thr373Lys
|
|
ENST00000676372.1:c.1220C>A
(GLA)
|
ENSP00000502805.1:n.1220C>A
|
|
ENST00000710365.1:c.1229C>A
(GLA)
|
ENSP00000518234.1:p.Thr410Lys
|
|
XR_938397.1:n.1239C>A
(GLA)
|
|
|
XR_938397.2:n.1260C>A
(GLA)
|
|
