|
ENST00000674127.2:c.*747T>C
(GLA)
|
ENSP00000501044.2:n.*747T>C
|
|
|
ENST00000710365.1:c.1319T>C
(GLA)
|
ENSP00000518234.1:p.Leu440Pro
|
|
|
ENST00000218516.4:c.1244T>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Leu415Pro
|
|
|
ENST00000466414.2:n.1380T>C
(GLA)
|
|
|
|
ENST00000468823.2:n.2666T>C
(GLA)
|
|
|
|
ENST00000479445.2:n.1858T>C
(GLA)
|
|
|
|
ENST00000649178.1:c.1367T>C
(GLA)
|
ENSP00000498186.1:p.Leu456Pro
|
|
|
ENST00000674127.1:c.1344T>C
(GLA)
|
ENSP00000501044.1:n.1344T>C
|
|
|
ENST00000674142.1:n.1421+127T>C
(GLA)
|
|
|
|
ENST00000675592.1:c.1046T>C
(GLA)
|
ENSP00000502239.1:p.Leu349Pro
|
|
|
ENST00000675968.1:n.4115T>C
(GLA)
|
|
|
|
ENST00000676156.1:c.1208T>C
(GLA)
|
ENSP00000501730.1:p.Leu403Pro
|
|
|
ENST00000676372.1:c.1310T>C
(GLA)
|
ENSP00000502805.1:n.1310T>C
|
|
|
ENST00000218516.3:c.1244T>C
(GLA)
|
ENSP00000218516.3:p.Leu415Pro
|
|
|
ENST00000409170.3:c.300+2398A>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2398A>G
|
|
|
ENST00000409338.5:c.177+6033A>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6033A>G
|
|
|
ENST00000466414.1:n.570T>C
(GLA)
|
|
|
|
ENST00000493905.6:c.*632T>C
(GLA)
|
ENSP00000476935.1:n.*632T>C
|
|
|
NM_000169.2:c.1244T>C , LRG_672t1:c.1244T>C
(GLA)
|
NP_000160.1:p.Leu415Pro
|
|
|
NM_001199973.1:c.408+2398A>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2398A>G
|
|
|
NM_001199974.1:c.285+6033A>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6033A>G
|
|
|
XR_938397.1:n.1329T>C
(GLA)
|
|
|
|
XR_938397.2:n.1350T>C
(GLA)
|
|
|
|
NM_001199973.2:c.300+2398A>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2398A>G
|
|
|
NM_001199974.2:c.177+6033A>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6033A>G
|
|
|
NM_000169.3:c.1244T>C
(GLA)
MANE Select
|
NP_000160.1:p.Leu415Pro
|
|
|
NR_164783.1:n.1323T>C
(GLA)
|
|
|
