|
ENST00000486121.7:c.*321C=
(GLA)
|
ENSP00000501124.2:n.*321C=
|
|
|
ENST00000674127.2:c.*378C=
(GLA)
|
ENSP00000501044.2:n.*378C=
|
|
|
ENST00000710365.1:c.950C=
(GLA)
|
ENSP00000518234.1:p.Ala317=
|
|
|
ENST00000218516.4:c.875C=
(GLA)
MANE Select
|
ENSP00000218516.4:p.Ala292=
|
|
|
ENST00000466414.2:n.1011C=
(GLA)
|
|
|
|
ENST00000468823.2:n.2027C=
(GLA)
|
|
|
|
ENST00000479445.2:n.1489C=
(GLA)
|
|
|
|
ENST00000480513.6:c.*183C=
(GLA)
|
ENSP00000497055.1:n.*183C=
|
|
|
ENST00000486121.6:c.920C=
(GLA)
|
|
|
|
ENST00000649178.1:c.998C=
(GLA)
|
ENSP00000498186.1:p.Ala333=
|
|
|
ENST00000674127.1:c.975C=
(GLA)
|
ENSP00000501044.1:n.975C=
|
|
|
ENST00000674142.1:n.1179C=
(GLA)
|
|
|
|
ENST00000674634.2:c.875C=
(GLA)
|
ENSP00000502629.2:p.Ala292=
|
|
|
ENST00000675592.1:c.801+291C=
(GLA)
|
ENSP00000502239.1:n.801+291C=
|
|
|
ENST00000675799.1:c.*400C=
(GLA)
|
ENSP00000502661.1:n.*400C=
|
|
|
ENST00000675968.1:n.3746C=
(GLA)
|
|
|
|
ENST00000676156.1:c.839C=
(GLA)
|
ENSP00000501730.1:p.Ala280=
|
|
|
ENST00000676372.1:c.941C=
(GLA)
|
ENSP00000502805.1:n.941C=
|
|
|
ENST00000218516.3:c.875C=
(GLA)
|
ENSP00000218516.3:p.Ala292=
|
|
|
ENST00000409170.3:c.300+3037G=
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3037G=
|
|
|
ENST00000409338.5:c.177+6672G=
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6672G=
|
|
|
ENST00000466414.1:n.201C=
(GLA)
|
|
|
|
ENST00000493905.6:c.*263C=
(GLA)
|
ENSP00000476935.1:n.*263C=
|
|
|
NM_000169.2:c.875C= , LRG_672t1:c.875C=
(GLA)
|
NP_000160.1:p.Ala292=
|
|
|
NM_001199973.1:c.408+3037G=
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3037G=
|
|
|
NM_001199974.1:c.285+6672G=
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6672G=
|
|
|
XR_938397.1:n.960C=
(GLA)
|
|
|
|
XR_938397.2:n.981C=
(GLA)
|
|
|
|
NM_001199973.2:c.300+3037G=
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3037G=
|
|
|
NM_001199974.2:c.177+6672G=
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6672G=
|
|
|
NM_000169.3:c.875C=
(GLA)
MANE Select
|
NP_000160.1:p.Ala292=
|
|
|
NR_164783.1:n.954C=
(GLA)
|
|
|
