|
ENST00000478995.2:n.3297G>C
|
|
|
|
ENST00000488970.2:n.3936G>C
|
|
|
|
ENST00000695614.1:c.1780G>C
|
ENSP00000512053.1:p.Gly594Arg
|
|
|
ENST00000695615.1:c.1780G>C
|
ENSP00000512054.1:p.Gly594Arg
|
|
|
ENST00000695616.1:c.*1625G>C
|
ENSP00000512055.1:n.*1625G>C
|
|
|
ENST00000695617.1:c.1777G>C
|
ENSP00000512056.1:p.Gly593Arg
|
|
|
ENST00000695618.1:c.*1529G>C
|
ENSP00000512058.1:n.*1529G>C
|
|
|
ENST00000695619.1:c.*1490G>C
|
ENSP00000512059.1:n.*1490G>C
|
|
|
ENST00000695620.1:c.*1706G>C
|
ENSP00000512060.1:n.*1706G>C
|
|
|
ENST00000695621.1:c.*205G>C
|
ENSP00000512061.1:n.*205G>C
|
|
|
ENST00000695622.1:c.1717G>C
|
ENSP00000512062.1:p.Gly573Arg
|
|
|
ENST00000695623.1:c.1774G>C
|
ENSP00000512063.1:p.Gly592Arg
|
|
|
ENST00000695624.1:n.1085G>C
|
|
|
|
ENST00000695625.1:c.1780G>C
|
ENSP00000512064.1:p.Gly594Arg
|
|
|
ENST00000695626.1:c.535G>C
|
ENSP00000512065.1:n.535G>C
|
|
|
ENST00000695627.1:c.728G>C
|
ENSP00000512066.1:n.728G>C
|
|
|
ENST00000695628.1:c.339G>C
|
ENSP00000512067.1:n.339G>C
|
|
|
ENST00000695629.1:c.220G>C
|
ENSP00000512068.1:p.Gly74Arg
|
|
|
ENST00000695630.1:c.507G>C
|
|
|
|
ENST00000695631.1:c.115-74G>C
|
|
|
|
ENST00000703407.1:c.1252G>C
|
ENSP00000512057.1:p.Gly418Arg
|
|
|
ENST00000308731.8:c.1780G>C
MANE Select
|
ENSP00000308176.8:p.Gly594Arg
|
|
|
ENST00000308731.7:c.1780G>C
|
ENSP00000308176.7:p.Gly594Arg
|
|
|
ENST00000372880.5:c.1252G>C
|
ENSP00000361971.1:p.Gly418Arg
|
|
|
ENST00000470069.1:n.145G>C
|
|
|
|
ENST00000488970.1:n.382G>C
|
|
|
|
ENST00000618050.4:c.1779G>C
|
ENSP00000479125.1:n.1779G>C
|
|
|
ENST00000621635.4:c.1882G>C
|
ENSP00000483570.1:p.Gly628Arg
|
|
|
NM_000061.2:c.1780G>C , LRG_128t1:c.1780G>C
|
NP_000052.1:p.Gly594Arg
|
|
|
NM_001287344.1:c.1882G>C
|
NP_001274273.1:p.Gly628Arg
|
|
|
NM_001287345.1:c.1252G>C
|
NP_001274274.1:p.Gly418Arg
|
|
|
NM_000061.3:c.1780G>C
MANE Select
|
NP_000052.1:p.Gly594Arg
|
|
|
NM_001287344.2:c.1882G>C
|
NP_001274273.1:p.Gly628Arg
|
|
|
NM_001287345.2:c.1252G>C
|
NP_001274274.1:p.Gly418Arg
|
|
