|
ENST00000375076.9:c.991+3G>C
MANE Select
|
ENSP00000364217.4:n.991+3G>C
|
|
|
ENST00000375055.6:c.994G>C
|
ENSP00000364195.2:p.Glu332Gln
|
|
|
ENST00000375065.6:c.178+3G>C
|
ENSP00000364206.6:n.178+3G>C
|
|
|
ENST00000375067.7:c.836+3G>C
|
ENSP00000364208.3:n.836+3G>C
|
|
|
ENST00000375069.7:c.1039+3G>C
|
ENSP00000364210.4:n.1039+3G>C
|
|
|
ENST00000375070.7:c.662-126G>C
|
ENSP00000364211.4:n.662-126G>C
|
|
|
ENST00000375076.8:c.991+3G>C
|
ENSP00000364217.4:n.991+3G>C
|
|
|
ENST00000438221.6:c.1042G>C
|
ENSP00000387887.2:p.Glu348Gln
|
|
|
ENST00000469940.5:n.33G>C
|
|
|
|
ENST00000473619.5:n.533+3G>C
|
|
|
|
ENST00000484849.5:n.1198+3G>C
|
|
|
|
ENST00000488669.5:n.536G>C
|
|
|
|
ENST00000620802.4:c.283-170G>C
|
ENSP00000484081.1:n.283-170G>C
|
|
|
NM_001136.4:c.991+3G>C
|
NP_001127.1:n.991+3G>C
|
|
|
NM_001206929.1:c.1039+3G>C
|
NP_001193858.1:n.1039+3G>C
|
|
|
NM_001206932.1:c.949+3G>C
|
NP_001193861.1:n.949+3G>C
|
|
|
NM_001206934.1:c.1042G>C
|
NP_001193863.1:p.Glu348Gln
|
|
|
NM_001206936.1:c.942G>C
|
NP_001193865.1:p.Val314=
|
|
|
NM_001206940.1:c.994G>C
|
NP_001193869.1:p.Glu332Gln
|
|
|
NM_001206954.1:c.852G>C
|
NP_001193883.1:p.Val284=
|
|
|
NM_001206966.1:c.994G>C
|
NP_001193895.1:p.Glu332Gln
|
|
|
NM_172197.2:c.836+3G>C
|
NP_751947.1:n.836+3G>C
|
|
|
NR_038190.1:n.1274+3G>C
|
|
|
|
XM_017010328.2:c.993G>C
|
XP_016865817.1:p.Val331=
|
|
|
XR_001743189.2:n.1055+3G>C
|
|
|
|
XR_001743190.2:n.1007+3G>C
|
|
|
|
NM_001136.5:c.991+3G>C
MANE Select
|
NP_001127.1:n.991+3G>C
|
|
|
NM_001206932.2:c.949+3G>C
|
NP_001193861.1:n.949+3G>C
|
|
|
NM_001206936.2:c.942G>C
|
NP_001193865.1:p.Val314=
|
|
|
NM_001206940.2:c.994G>C
|
NP_001193869.1:p.Glu332Gln
|
|
|
NM_001206954.2:c.852G>C
|
NP_001193883.1:p.Val284=
|
|
|
NM_001206966.2:c.994G>C
|
NP_001193895.1:p.Glu332Gln
|
|
|
NM_172197.3:c.836+3G>C
|
NP_751947.1:n.836+3G>C
|
|
|
NR_038190.2:n.1205+3G>C
|
|
|
|
NM_001206929.2:c.1039+3G>C
|
NP_001193858.1:n.1039+3G>C
|
|
|
NM_001206934.2:c.1042G>C
|
NP_001193863.1:p.Glu348Gln
|
|
