|
ENST00000486121.7:c.*125C=
(GLA)
|
ENSP00000501124.2:n.*125C=
|
|
|
ENST00000674127.2:c.*182C=
(GLA)
|
ENSP00000501044.2:n.*182C=
|
|
|
ENST00000710365.1:c.754C=
(GLA)
|
ENSP00000518234.1:p.Arg252=
|
|
|
ENST00000218516.4:c.679C=
(GLA)
MANE Select
|
ENSP00000218516.4:p.Arg227=
|
|
|
ENST00000466414.2:n.598C=
(GLA)
|
|
|
|
ENST00000468823.2:n.1614C=
(GLA)
|
|
|
|
ENST00000479445.2:n.1076C=
(GLA)
|
|
|
|
ENST00000480513.6:c.587C=
(GLA)
|
ENSP00000497055.1:p.Ala196=
|
|
|
ENST00000486121.6:c.724C=
(GLA)
|
|
|
|
ENST00000649178.1:c.802C=
(GLA)
|
ENSP00000498186.1:p.Arg268=
|
|
|
ENST00000674127.1:c.779C=
(GLA)
|
ENSP00000501044.1:n.779C=
|
|
|
ENST00000674142.1:n.766C=
(GLA)
|
|
|
|
ENST00000674634.2:c.679C=
(GLA)
|
ENSP00000502629.2:p.Arg227=
|
|
|
ENST00000675592.1:c.679C=
(GLA)
|
ENSP00000502239.1:p.Arg227=
|
|
|
ENST00000675799.1:c.587C=
(GLA)
|
ENSP00000502661.1:p.Ala196=
|
|
|
ENST00000675968.1:n.3333C=
(GLA)
|
|
|
|
ENST00000676156.1:c.643C=
(GLA)
|
ENSP00000501730.1:p.Arg215=
|
|
|
ENST00000676372.1:c.679C=
(GLA)
|
ENSP00000502805.1:p.Arg227=
|
|
|
ENST00000218516.3:c.679C=
(GLA)
|
ENSP00000218516.3:p.Arg227=
|
|
|
ENST00000409170.3:c.300+3450G=
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3450G=
|
|
|
ENST00000409338.5:c.177+7085G=
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+7085G=
|
|
|
ENST00000468823.1:n.228C=
(GLA)
|
|
|
|
ENST00000480513.5:n.517C=
(GLA)
|
|
|
|
ENST00000493905.6:c.*67C=
(GLA)
|
ENSP00000476935.1:n.*67C=
|
|
|
NM_000169.2:c.679C= , LRG_672t1:c.679C=
(GLA)
|
NP_000160.1:p.Arg227=
|
|
|
NM_001199973.1:c.408+3450G=
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3450G=
|
|
|
NM_001199974.1:c.285+7085G=
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+7085G=
|
|
|
XR_938397.1:n.764C=
(GLA)
|
|
|
|
XR_938397.2:n.785C=
(GLA)
|
|
|
|
NM_001199973.2:c.300+3450G=
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3450G=
|
|
|
NM_001199974.2:c.177+7085G=
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+7085G=
|
|
|
NM_000169.3:c.679C=
(GLA)
MANE Select
|
NP_000160.1:p.Arg227=
|
|
|
NR_164783.1:n.758C=
(GLA)
|
|
|
