|
ENST00000556892.6:c.253G>C
|
ENSP00000452206.2:p.Glu85Gln
|
|
|
ENST00000556979.6:c.*925G>C
|
ENSP00000452378.1:n.*925G>C
|
|
|
ENST00000358664.9:c.472G>C
MANE Select
|
ENSP00000351490.4:p.Glu158Gln
|
|
|
ENST00000651648.1:c.145-6118G>C
|
ENSP00000498863.1:n.145-6118G>C
|
|
|
ENST00000284165.10:c.*1316G>C
|
ENSP00000284165.6:n.*1316G>C
|
|
|
ENST00000341653.6:c.171+17221G>C
|
ENSP00000342482.2:n.171+17221G>C
|
|
|
ENST00000358402.8:c.445G>C
|
ENSP00000351175.4:p.Glu149Gln
|
|
|
ENST00000358664.8:c.472G>C
|
ENSP00000351490.4:p.Glu158Gln
|
|
|
ENST00000394606.6:c.*245G>C
|
ENSP00000378104.2:n.*245G>C
|
|
|
ENST00000553928.5:c.*261G>C
|
ENSP00000451907.1:n.*261G>C
|
|
|
ENST00000555419.5:c.364G>C
|
ENSP00000452405.1:p.Glu122Gln
|
|
|
ENST00000555932.5:c.213G>C
|
ENSP00000450763.1:p.Trp71Cys
|
|
|
ENST00000557277.5:c.283G>C
|
ENSP00000450955.1:p.Glu95Gln
|
|
|
ENST00000618858.4:c.*261G>C
|
ENSP00000480127.1:n.*261G>C
|
|
|
NM_001271069.1:c.144+17221G>C
|
NP_001257998.1:n.144+17221G>C
|
|
|
NM_002382.4:c.472G>C
|
NP_002373.3:p.Glu158Gln
|
|
|
NM_145112.2:c.445G>C
|
NP_660087.1:p.Glu149Gln
|
|
|
NM_145113.2:c.*261G>C
|
NP_660088.1:n.*261G>C
|
|
|
NM_197957.3:c.171+17221G>C
|
NP_932061.1:n.171+17221G>C
|
|
|
NR_073137.1:n.596G>C
|
|
|
|
XR_429315.2:n.759G>C
|
|
|
|
NM_001320415.1:c.283G>C
|
NP_001307344.1:p.Glu95Gln
|
|
|
XM_017021312.2:c.283G>C
|
XP_016876801.1:p.Glu95Gln
|
|
|
XM_017021313.1:c.283G>C
|
XP_016876802.1:p.Glu95Gln
|
|
|
XR_001750326.2:n.817G>C
|
|
|
|
XR_001750327.2:n.736G>C
|
|
|
|
XR_002957553.1:n.1250G>C
|
|
|
|
XR_943450.3:n.840G>C
|
|
|
|
XR_943451.3:n.856G>C
|
|
|
|
XR_943452.3:n.801G>C
|
|
|
|
NM_001320415.2:c.283G>C
|
NP_001307344.1:p.Glu95Gln
|
|
|
NM_002382.5:c.472G>C
MANE Select
|
NP_002373.3:p.Glu158Gln
|
|
|
NM_145112.3:c.445G>C
|
NP_660087.1:p.Glu149Gln
|
|
|
NM_145113.3:c.*261G>C
|
NP_660088.1:n.*261G>C
|
|
|
NM_001271069.2:c.144+17221G>C
|
NP_001257998.1:n.144+17221G>C
|
|
|
NM_197957.4:c.171+17221G>C
|
NP_932061.1:n.171+17221G>C
|
|
