ENST00000486121.7:c.*433C>G
(GLA)
|
ENSP00000501124.2:n.*433C>G
|
|
ENST00000674127.2:c.*490C>G
(GLA)
|
ENSP00000501044.2:n.*490C>G
|
|
ENST00000710365.1:c.1062C>G
(GLA)
|
ENSP00000518234.1:p.Tyr354Ter
|
|
ENST00000218516.4:c.987C>G
(GLA)
MANE Select
|
ENSP00000218516.4:p.Tyr329Ter
|
|
ENST00000466414.2:n.1123C>G
(GLA)
|
|
|
ENST00000468823.2:n.2139C>G
(GLA)
|
|
|
ENST00000479445.2:n.1601C>G
(GLA)
|
|
|
ENST00000480513.6:c.*295C>G
(GLA)
|
ENSP00000497055.1:n.*295C>G
|
|
ENST00000486121.6:c.1032C>G
(GLA)
|
|
|
ENST00000649178.1:c.1110C>G
(GLA)
|
ENSP00000498186.1:p.Tyr370Ter
|
|
ENST00000674127.1:c.1087C>G
(GLA)
|
ENSP00000501044.1:n.1087C>G
|
|
ENST00000674142.1:n.1291C>G
(GLA)
|
|
|
ENST00000674634.2:c.987C>G
(GLA)
|
ENSP00000502629.2:p.Tyr329Ter
|
|
ENST00000675592.1:c.802-283C>G
(GLA)
|
ENSP00000502239.1:n.802-283C>G
|
|
ENST00000675799.1:c.*512C>G
(GLA)
|
ENSP00000502661.1:n.*512C>G
|
|
ENST00000675968.1:n.3858C>G
(GLA)
|
|
|
ENST00000676156.1:c.951C>G
(GLA)
|
ENSP00000501730.1:p.Tyr317Ter
|
|
ENST00000676372.1:c.1053C>G
(GLA)
|
ENSP00000502805.1:n.1053C>G
|
|
ENST00000218516.3:c.987C>G
(GLA)
|
ENSP00000218516.3:p.Tyr329Ter
|
|
ENST00000409170.3:c.300+2925G>C
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2925G>C
|
|
ENST00000409338.5:c.177+6560G>C
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6560G>C
|
|
ENST00000466414.1:n.313C>G
(GLA)
|
|
|
ENST00000493905.6:c.*375C>G
(GLA)
|
ENSP00000476935.1:n.*375C>G
|
|
NM_000169.2:c.987C>G , LRG_672t1:c.987C>G
(GLA)
|
NP_000160.1:p.Tyr329Ter
|
|
NM_001199973.1:c.408+2925G>C
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2925G>C
|
|
NM_001199974.1:c.285+6560G>C
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6560G>C
|
|
XR_938397.1:n.1072C>G
(GLA)
|
|
|
XR_938397.2:n.1093C>G
(GLA)
|
|
|
NM_001199973.2:c.300+2925G>C
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2925G>C
|
|
NM_001199974.2:c.177+6560G>C
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6560G>C
|
|
NM_000169.3:c.987C>G
(GLA)
MANE Select
|
NP_000160.1:p.Tyr329Ter
|
|
NR_164783.1:n.1066C>G
(GLA)
|
|
|