|
ENST00000434676.7:c.436G>A
|
ENSP00000390090.2:p.Asp146Asn
|
|
|
ENST00000546757.6:c.*122G>A
|
ENSP00000448105.2:n.*122G>A
|
|
|
ENST00000547078.6:c.475G>A
|
ENSP00000448802.2:p.Asp159Asn
|
|
|
ENST00000547719.2:n.2069G>A
|
|
|
|
ENST00000547932.6:c.297+3582G>A
|
ENSP00000515272.1:n.297+3582G>A
|
|
|
ENST00000548671.6:c.436G>A
|
ENSP00000515271.1:p.Asp146Asn
|
|
|
ENST00000548750.6:c.370-2214G>A
|
ENSP00000447788.2:n.370-2214G>A
|
|
|
ENST00000549926.6:c.-12G>A
|
ENSP00000515263.1:n.-12G>A
|
|
|
ENST00000550011.6:c.*426G>A
|
ENSP00000515261.1:n.*426G>A
|
|
|
ENST00000550093.6:n.430G>A
|
|
|
|
ENST00000551076.6:c.*53G>A
|
ENSP00000515275.1:n.*53G>A
|
|
|
ENST00000551476.6:c.385G>A
|
ENSP00000447845.2:p.Asp129Asn
|
|
|
ENST00000551643.6:c.*267G>A
|
ENSP00000450401.1:n.*267G>A
|
|
|
ENST00000703337.1:c.*233G>A
|
ENSP00000515262.1:n.*233G>A
|
|
|
ENST00000703338.1:c.-12G>A
|
ENSP00000515264.1:n.-12G>A
|
|
|
ENST00000703360.1:c.*122G>A
|
ENSP00000515270.1:n.*122G>A
|
|
|
ENST00000703361.1:c.251-7648G>A
|
ENSP00000515273.1:n.251-7648G>A
|
|
|
ENST00000703362.1:c.297+3582G>A
|
ENSP00000515274.1:n.297+3582G>A
|
|
|
ENST00000703363.1:n.2057G>A
|
|
|
|
ENST00000703364.1:n.2041G>A
|
|
|
|
ENST00000703365.1:c.436G>A
|
ENSP00000515276.1:p.Asp146Asn
|
|
|
ENST00000703366.1:n.1470G>A
|
|
|
|
ENST00000703367.1:c.436G>A
|
ENSP00000515277.1:p.Asp146Asn
|
|
|
ENST00000703368.1:c.475G>A
|
ENSP00000515278.1:p.Asp159Asn
|
|
|
ENST00000703369.1:c.251-7648G>A
|
ENSP00000515279.1:n.251-7648G>A
|
|
|
ENST00000703370.1:c.-12G>A
|
ENSP00000515280.1:n.-12G>A
|
|
|
ENST00000703371.1:c.-12G>A
|
ENSP00000515281.1:n.-12G>A
|
|
|
ENST00000703372.1:c.229G>A
|
ENSP00000515282.1:p.Asp77Asn
|
|
|
ENST00000549701.6:c.436G>A
MANE Select
|
ENSP00000450399.1:p.Asp146Asn
|
|
|
ENST00000553257.6:c.475G>A
MANE Plus Clinical
|
ENSP00000449089.1:p.Asp159Asn
|
|
|
ENST00000266481.10:c.436G>A
|
ENSP00000266481.6:p.Asp146Asn
|
|
|
ENST00000358214.9:c.475G>A
|
ENSP00000350948.5:p.Asp159Asn
|
|
|
ENST00000381000.8:c.475G>A
|
ENSP00000370388.4:p.Asp159Asn
|
|
|
ENST00000413295.6:c.370-2214G>A
|
ENSP00000396030.2:n.370-2214G>A
|
|
|
ENST00000414834.6:c.131+3582G>A
|
ENSP00000404160.2:n.131+3582G>A
|
|
|
ENST00000434676.6:c.436G>A
|
ENSP00000390090.2:p.Asp146Asn
|
|
|
ENST00000452533.6:c.436G>A
|
ENSP00000415131.2:p.Asp146Asn
|
|
|
ENST00000546649.5:c.336+3582G>A
|
ENSP00000448936.1:n.336+3582G>A
|
|
|
ENST00000546757.5:c.287G>A
|
ENSP00000448105.1:n.287G>A
|
|
|
ENST00000547312.5:c.436G>A
|
ENSP00000448610.1:p.Asp146Asn
|
|
|
ENST00000547932.5:n.341+3582G>A
|
|
|
|
ENST00000548671.5:n.499G>A
|
|
|
|
ENST00000548750.5:c.370-2214G>A
|
ENSP00000447788.1:n.370-2214G>A
|
|
|
ENST00000549701.5:c.436G>A
|
ENSP00000450399.1:p.Asp146Asn
|
|
|
ENST00000549926.5:n.614G>A
|
|
|
|
ENST00000550154.5:c.364G>A
|
ENSP00000447013.1:p.Asp122Asn
|
|
|
ENST00000551076.5:n.548G>A
|
|
|
|
ENST00000551476.5:c.385G>A
|
ENSP00000447845.1:p.Asp129Asn
|
|
|
ENST00000553257.5:c.475G>A
|
ENSP00000449089.1:p.Asp159Asn
|
|
|
NM_001278463.1:c.436G>A
|
NP_001265392.1:p.Asp146Asn
|
|
|
NM_001278464.1:c.475G>A
|
NP_001265393.1:p.Asp159Asn
|
|
|
NM_001278465.1:c.475G>A
|
NP_001265394.1:p.Asp159Asn
|
|
|
NM_001278466.1:c.131+3582G>A
|
NP_001265395.1:n.131+3582G>A
|
|
|
NM_005690.4:c.436G>A
|
NP_005681.2:p.Asp146Asn
|
|
|
NM_012062.4:c.436G>A
|
NP_036192.2:p.Asp146Asn
|
|
|
NM_012063.3:c.436G>A
|
NP_036193.2:p.Asp146Asn
|
|
|
XM_005253282.3:c.475G>A
|
XP_005253339.1:p.Asp159Asn
|
|
|
XM_005253283.3:c.-12G>A
|
XP_005253340.1:n.-12G>A
|
|
|
XM_011520543.1:c.475G>A
|
XP_011518845.1:p.Asp159Asn
|
|
|
XM_011520544.1:c.-59G>A
|
XP_011518846.1:n.-59G>A
|
|
|
NM_001330380.1:c.475G>A
|
NP_001317309.1:p.Asp159Asn
|
|
|
XM_011520543.3:c.475G>A
|
XP_011518845.1:p.Asp159Asn
|
|
|
XM_011520544.2:c.-59G>A
|
XP_011518846.1:n.-59G>A
|
|
|
XM_017018663.2:c.-59G>A
|
XP_016874152.1:n.-59G>A
|
|
|
XM_017018664.1:c.-59G>A
|
XP_016874153.1:n.-59G>A
|
|
|
XM_017018665.1:c.-59G>A
|
XP_016874154.1:n.-59G>A
|
|
|
NM_012062.5:c.436G>A
MANE Select
|
NP_036192.2:p.Asp146Asn
|
|
|
NM_001278463.2:c.436G>A
|
NP_001265392.1:p.Asp146Asn
|
|
|
NM_001278464.2:c.475G>A
MANE Plus Clinical
|
NP_001265393.1:p.Asp159Asn
|
|
|
NM_001278465.2:c.475G>A
|
NP_001265394.1:p.Asp159Asn
|
|
|
NM_001278466.2:c.131+3582G>A
|
NP_001265395.1:n.131+3582G>A
|
|
|
NM_001330380.2:c.475G>A
|
NP_001317309.1:p.Asp159Asn
|
|
|
NM_005690.5:c.436G>A
|
NP_005681.2:p.Asp146Asn
|
|
|
NM_012063.4:c.436G>A
|
NP_036193.2:p.Asp146Asn
|
|
