|
ENST00000486121.7:c.*470C=
(GLA)
|
ENSP00000501124.2:n.*470C=
|
|
|
ENST00000674127.2:c.*527C=
(GLA)
|
ENSP00000501044.2:n.*527C=
|
|
|
ENST00000710365.1:c.1099C=
(GLA)
|
ENSP00000518234.1:p.Arg367=
|
|
|
ENST00000218516.4:c.1024C=
(GLA)
MANE Select
|
ENSP00000218516.4:p.Arg342=
|
|
|
ENST00000466414.2:n.1160C=
(GLA)
|
|
|
|
ENST00000468823.2:n.2446C=
(GLA)
|
|
|
|
ENST00000479445.2:n.1638C=
(GLA)
|
|
|
|
ENST00000480513.6:c.*332C=
(GLA)
|
ENSP00000497055.1:n.*332C=
|
|
|
ENST00000486121.6:c.1069C=
(GLA)
|
|
|
|
ENST00000649178.1:c.1147C=
(GLA)
|
ENSP00000498186.1:p.Arg383=
|
|
|
ENST00000674127.1:c.1124C=
(GLA)
|
ENSP00000501044.1:n.1124C=
|
|
|
ENST00000674142.1:n.1328C=
(GLA)
|
|
|
|
ENST00000675592.1:c.826C=
(GLA)
|
ENSP00000502239.1:p.Arg276=
|
|
|
ENST00000675799.1:c.*549C=
(GLA)
|
ENSP00000502661.1:n.*549C=
|
|
|
ENST00000675968.1:n.3895C=
(GLA)
|
|
|
|
ENST00000676156.1:c.988C=
(GLA)
|
ENSP00000501730.1:p.Arg330=
|
|
|
ENST00000676372.1:c.1090C=
(GLA)
|
ENSP00000502805.1:n.1090C=
|
|
|
ENST00000218516.3:c.1024C=
(GLA)
|
ENSP00000218516.3:p.Arg342=
|
|
|
ENST00000409170.3:c.300+2618G=
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2618G=
|
|
|
ENST00000409338.5:c.177+6253G=
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6253G=
|
|
|
ENST00000466414.1:n.350C=
(GLA)
|
|
|
|
ENST00000493905.6:c.*412C=
(GLA)
|
ENSP00000476935.1:n.*412C=
|
|
|
NM_000169.2:c.1024C= , LRG_672t1:c.1024C=
(GLA)
|
NP_000160.1:p.Arg342=
|
|
|
NM_001199973.1:c.408+2618G=
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2618G=
|
|
|
NM_001199974.1:c.285+6253G=
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6253G=
|
|
|
XR_938397.1:n.1109C=
(GLA)
|
|
|
|
XR_938397.2:n.1130C=
(GLA)
|
|
|
|
NM_001199973.2:c.300+2618G=
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2618G=
|
|
|
NM_001199974.2:c.177+6253G=
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6253G=
|
|
|
NM_000169.3:c.1024C=
(GLA)
MANE Select
|
NP_000160.1:p.Arg342=
|
|
|
NR_164783.1:n.1103C=
(GLA)
|
|
|
