|
NM_000169.3:c.801+1G>C
(GLA)
MANE Select
|
NP_000160.1:n.801+1G>C
|
|
ENST00000218516.4:c.801+1G>C
(GLA)
MANE Select
|
ENSP00000218516.4:n.801+1G>C
|
|
NM_000169.2:c.801+1G>C , LRG_672t1:c.801+1G>C
(GLA)
|
NP_000160.1:n.801+1G>C
|
|
NM_001199973.1:c.408+3327C>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3327C>G
|
|
NM_001199973.2:c.300+3327C>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3327C>G
|
|
NM_001199974.1:c.285+6962C>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6962C>G
|
|
NM_001199974.2:c.177+6962C>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6962C>G
|
|
NR_164783.1:n.880+1G>C
(GLA)
|
|
|
ENST00000218516.3:c.801+1G>C
(GLA)
|
ENSP00000218516.3:n.801+1G>C
|
|
ENST00000409170.3:c.300+3327C>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3327C>G
|
|
ENST00000409338.5:c.177+6962C>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6962C>G
|
|
ENST00000466414.2:n.721G>C
(GLA)
|
|
|
ENST00000468823.1:n.351G>C
(GLA)
|
|
|
ENST00000468823.2:n.1737G>C
(GLA)
|
|
|
ENST00000479445.2:n.1199G>C
(GLA)
|
|
|
ENST00000480513.6:c.*109+1G>C
(GLA)
|
ENSP00000497055.1:n.*109+1G>C
|
|
ENST00000486121.6:c.846+1G>C
(GLA)
|
|
|
ENST00000486121.7:c.*247+1G>C
(GLA)
|
ENSP00000501124.2:n.*247+1G>C
|
|
ENST00000493905.6:c.*189+1G>C
(GLA)
|
ENSP00000476935.1:n.*189+1G>C
|
|
ENST00000649178.1:c.924+1G>C
(GLA)
|
ENSP00000498186.1:n.924+1G>C
|
|
ENST00000674127.1:c.901+1G>C
(GLA)
|
ENSP00000501044.1:n.901+1G>C
|
|
ENST00000674127.2:c.*304+1G>C
(GLA)
|
ENSP00000501044.2:n.*304+1G>C
|
|
ENST00000674142.1:n.889G>C
(GLA)
|
|
|
ENST00000674634.2:c.801+1G>C
(GLA)
|
ENSP00000502629.2:n.801+1G>C
|
|
ENST00000675592.1:c.801+1G>C
(GLA)
|
ENSP00000502239.1:n.801+1G>C
|
|
ENST00000675799.1:c.*110G>C
(GLA)
|
ENSP00000502661.1:n.*110G>C
|
|
ENST00000675968.1:n.3456G>C
(GLA)
|
|
|
ENST00000676156.1:c.765+1G>C
(GLA)
|
ENSP00000501730.1:n.765+1G>C
|
|
ENST00000676372.1:c.802G>C
(GLA)
|
ENSP00000502805.1:p.Val268Leu
|
|
ENST00000710365.1:c.876+1G>C
(GLA)
|
ENSP00000518234.1:n.876+1G>C
|
|
XR_938397.1:n.886+1G>C
(GLA)
|
|
|
XR_938397.2:n.907+1G>C
(GLA)
|
|
