ENST00000486121.7:c.*376C=
(GLA)
|
ENSP00000501124.2:n.*376C=
|
|
ENST00000674127.2:c.*433C=
(GLA)
|
ENSP00000501044.2:n.*433C=
|
|
ENST00000710365.1:c.1005C=
(GLA)
|
ENSP00000518234.1:p.Leu335=
|
|
ENST00000218516.4:c.930C=
(GLA)
MANE Select
|
ENSP00000218516.4:p.Leu310=
|
|
ENST00000466414.2:n.1066C=
(GLA)
|
|
|
ENST00000468823.2:n.2082C=
(GLA)
|
|
|
ENST00000479445.2:n.1544C=
(GLA)
|
|
|
ENST00000480513.6:c.*238C=
(GLA)
|
ENSP00000497055.1:n.*238C=
|
|
ENST00000486121.6:c.975C=
(GLA)
|
|
|
ENST00000649178.1:c.1053C=
(GLA)
|
ENSP00000498186.1:p.Leu351=
|
|
ENST00000674127.1:c.1030C=
(GLA)
|
ENSP00000501044.1:n.1030C=
|
|
ENST00000674142.1:n.1234C=
(GLA)
|
|
|
ENST00000674634.2:c.930C=
(GLA)
|
ENSP00000502629.2:p.Leu310=
|
|
ENST00000675592.1:c.802-340C=
(GLA)
|
ENSP00000502239.1:n.802-340C=
|
|
ENST00000675799.1:c.*455C=
(GLA)
|
ENSP00000502661.1:n.*455C=
|
|
ENST00000675968.1:n.3801C=
(GLA)
|
|
|
ENST00000676156.1:c.894C=
(GLA)
|
ENSP00000501730.1:p.Leu298=
|
|
ENST00000676372.1:c.996C=
(GLA)
|
ENSP00000502805.1:n.996C=
|
|
ENST00000218516.3:c.930C=
(GLA)
|
ENSP00000218516.3:p.Leu310=
|
|
ENST00000409170.3:c.300+2982G=
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2982G=
|
|
ENST00000409338.5:c.177+6617G=
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6617G=
|
|
ENST00000466414.1:n.256C=
(GLA)
|
|
|
ENST00000493905.6:c.*318C=
(GLA)
|
ENSP00000476935.1:n.*318C=
|
|
NM_000169.2:c.930C= , LRG_672t1:c.930C=
(GLA)
|
NP_000160.1:p.Leu310=
|
|
NM_001199973.1:c.408+2982G=
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2982G=
|
|
NM_001199974.1:c.285+6617G=
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6617G=
|
|
XR_938397.1:n.1015C=
(GLA)
|
|
|
XR_938397.2:n.1036C=
(GLA)
|
|
|
NM_001199973.2:c.300+2982G=
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2982G=
|
|
NM_001199974.2:c.177+6617G=
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6617G=
|
|
NM_000169.3:c.930C=
(GLA)
MANE Select
|
NP_000160.1:p.Leu310=
|
|
NR_164783.1:n.1009C=
(GLA)
|
|
|