|
ENST00000359366.10:c.*31C>G
|
ENSP00000352324.5:n.*31C>G
|
|
|
ENST00000515746.6:c.234+2811C>G
|
ENSP00000422073.1:n.234+2811C>G
|
|
|
ENST00000526872.3:c.340C>G
|
|
|
|
ENST00000554672.6:c.-181C>G
|
ENSP00000451417.2:n.-181C>G
|
|
|
ENST00000556082.6:c.*31C>G
|
ENSP00000450492.1:n.*31C>G
|
|
|
ENST00000556315.6:c.*31C>G
|
ENSP00000451132.1:n.*31C>G
|
|
|
ENST00000557030.6:c.189+3392C>G
|
ENSP00000452139.1:n.189+3392C>G
|
|
|
ENST00000557311.6:c.-62-10024C>G
|
ENSP00000450642.2:n.-62-10024C>G
|
|
|
ENST00000644486.2:c.357C>G
MANE Select
|
ENSP00000496695.1:p.His119Gln
|
|
|
ENST00000646485.1:c.-181C>G
|
ENSP00000496590.1:n.-181C>G
|
|
|
ENST00000647161.1:c.357C>G
|
ENSP00000493680.1:p.His119Gln
|
|
|
ENST00000340660.10:c.192C>G
|
ENSP00000339110.6:p.His64Gln
|
|
|
ENST00000359366.9:c.*31C>G
|
ENSP00000352324.5:n.*31C>G
|
|
|
ENST00000393287.9:c.234+2811C>G
|
ENSP00000376965.6:n.234+2811C>G
|
|
|
ENST00000429774.6:c.147C>G
|
ENSP00000389376.3:p.His49Gln
|
|
|
ENST00000502250.5:c.-181C>G
|
ENSP00000425322.1:n.-181C>G
|
|
|
ENST00000503767.5:c.312C>G
|
ENSP00000426697.1:p.His104Gln
|
|
|
ENST00000506466.5:c.189+3392C>G
|
ENSP00000435571.1:n.189+3392C>G
|
|
|
ENST00000511362.5:n.372C>G
|
|
|
|
ENST00000515746.5:c.234+2811C>G
|
ENSP00000422073.1:n.234+2811C>G
|
|
|
ENST00000526245.1:n.36C>G
|
|
|
|
ENST00000526872.2:c.333C>G
|
ENSP00000474067.1:p.His111Gln
|
|
|
ENST00000532032.5:c.357C>G
|
ENSP00000437157.1:p.His119Gln
|
|
|
ENST00000545170.5:c.357C>G
|
ENSP00000445618.2:p.His119Gln
|
|
|
ENST00000553287.5:n.83C>G
|
|
|
|
ENST00000553309.5:n.379C>G
|
|
|
|
ENST00000553488.5:c.*31C>G
|
ENSP00000452461.1:n.*31C>G
|
|
|
ENST00000553491.5:c.234+2811C>G
|
ENSP00000451996.1:n.234+2811C>G
|
|
|
ENST00000553498.5:n.256+2811C>G
|
|
|
|
ENST00000553570.5:c.192C>G
|
ENSP00000451405.1:p.His64Gln
|
|
|
ENST00000553686.5:n.256+2811C>G
|
|
|
|
ENST00000554040.5:n.128C>G
|
|
|
|
ENST00000554214.5:n.128C>G
|
|
|
|
ENST00000554350.5:c.320+464C>G
|
ENSP00000451103.1:n.320+464C>G
|
|
|
ENST00000554491.5:n.379C>G
|
|
|
|
ENST00000554592.5:c.354C>G
|
ENSP00000451385.1:p.His118Gln
|
|
|
ENST00000554672.5:c.63C>G
|
ENSP00000451417.1:p.His21Gln
|
|
|
ENST00000554673.5:c.357C>G
|
ENSP00000452356.1:p.His119Gln
|
|
|
ENST00000554994.5:c.357C>G
|
ENSP00000451771.1:p.His119Gln
|
|
|
ENST00000555381.5:c.147C>G
|
ENSP00000451001.1:p.His49Gln
|
|
|
ENST00000555816.5:c.*31C>G
|
ENSP00000451910.1:n.*31C>G
|
|
|
ENST00000555958.5:n.214C>G
|
|
|
|
ENST00000556082.5:c.*31C>G
|
ENSP00000450492.1:n.*31C>G
|
|
|
ENST00000556220.5:c.69+2811C>G
|
ENSP00000450641.1:n.69+2811C>G
|
|
|
ENST00000556274.5:c.*31C>G
|
ENSP00000451733.1:n.*31C>G
|
|
|
ENST00000556288.5:c.*31C>G
|
ENSP00000450566.1:n.*31C>G
|
|
|
ENST00000556315.5:c.*31C>G
|
ENSP00000451132.1:n.*31C>G
|
|
|
ENST00000556339.5:n.379C>G
|
|
|
|
ENST00000556374.5:c.*31C>G
|
ENSP00000451399.1:n.*31C>G
|
|
|
ENST00000556644.5:n.256+2811C>G
|
|
|
|
ENST00000556671.5:c.234+2811C>G
|
ENSP00000451693.1:n.234+2811C>G
|
|
|
ENST00000556898.5:c.357C>G
|
ENSP00000451769.1:p.His119Gln
|
|
|
ENST00000556958.5:c.234+2811C>G
|
ENSP00000452532.1:n.234+2811C>G
|
|
|
ENST00000557030.5:c.189+3392C>G
|
ENSP00000452139.1:n.189+3392C>G
|
|
|
ENST00000557311.5:c.-62-10024C>G
|
ENSP00000450642.1:n.-62-10024C>G
|
|
|
ENST00000558190.5:c.357C>G
|
ENSP00000478320.1:p.His119Gln
|
|
|
ENST00000617719.4:c.357C>G
|
ENSP00000481998.1:p.His119Gln
|
|
|
ENST00000620536.4:c.357C>G
|
ENSP00000484016.1:p.His119Gln
|
|
|
ENST00000621269.4:c.357C>G
|
ENSP00000481390.1:p.His119Gln
|
|
|
NM_001127696.1:c.312C>G
|
NP_001121168.1:p.His104Gln
|
|
|
NM_001127697.2:c.234+2811C>G
|
NP_001121169.2:n.234+2811C>G
|
|
|
NM_001164774.1:c.189+3392C>G
|
NP_001158246.1:n.189+3392C>G
|
|
|
NM_001164776.1:c.234+2811C>G
|
NP_001158248.1:n.234+2811C>G
|
|
|
NM_001164777.1:c.69+2811C>G
|
NP_001158249.1:n.69+2811C>G
|
|
|
NM_001164778.1:c.357C>G
|
NP_001158250.1:p.His119Gln
|
|
|
NM_001164779.1:c.25-4465C>G
|
NP_001158251.1:n.25-4465C>G
|
|
|
NM_001164780.1:c.-181C>G
|
NP_001158252.1:n.-181C>G
|
|
|
NM_001164781.1:c.147C>G
|
NP_001158253.1:p.His49Gln
|
|
|
NM_001164782.1:c.24+13247C>G
|
NP_001158254.1:n.24+13247C>G
|
|
|
NM_004993.5:c.357C>G
|
NP_004984.2:p.His119Gln
|
|
|
NM_030660.4:c.192C>G
|
NP_109376.1:p.His64Gln
|
|
|
NR_028453.1:n.340C>G
|
|
|
|
NR_028454.1:n.175C>G
|
|
|
|
NR_028455.1:n.340C>G
|
|
|
|
NR_028456.1:n.175C>G
|
|
|
|
NR_028457.1:n.340C>G
|
|
|
|
NR_028458.1:n.340C>G
|
|
|
|
NR_028459.1:n.426C>G
|
|
|
|
NR_028460.1:n.340C>G
|
|
|
|
NR_028461.1:n.426C>G
|
|
|
|
NR_028462.1:n.340C>G
|
|
|
|
NR_028463.1:n.94-10024C>G
|
|
|
|
NR_028464.1:n.303+2811C>G
|
|
|
|
NR_028465.1:n.295C>G
|
|
|
|
NR_028466.1:n.94-10024C>G
|
|
|
|
NR_028467.1:n.303+2811C>G
|
|
|
|
NR_028468.1:n.340C>G
|
|
|
|
NR_028469.1:n.175C>G
|
|
|
|
NR_028470.1:n.130C>G
|
|
|
|
NR_031765.1:n.94-10816C>G
|
|
|
|
NM_001127696.2:c.312C>G
|
NP_001121168.1:p.His104Gln
|
|
|
NM_001164774.2:c.189+3392C>G
|
NP_001158246.1:n.189+3392C>G
|
|
|
NM_001164776.2:c.234+2811C>G
|
NP_001158248.1:n.234+2811C>G
|
|
|
NM_001164777.2:c.69+2811C>G
|
NP_001158249.1:n.69+2811C>G
|
|
|
NM_001164778.2:c.357C>G
|
NP_001158250.1:p.His119Gln
|
|
|
NM_001164779.2:c.25-4465C>G
|
NP_001158251.1:n.25-4465C>G
|
|
|
NM_001164780.2:c.-181C>G
|
NP_001158252.1:n.-181C>G
|
|
|
NM_001164782.2:c.24+13247C>G
|
NP_001158254.1:n.24+13247C>G
|
|
|
NM_004993.6:c.357C>G
MANE Select
|
NP_004984.2:p.His119Gln
|
|
|
NM_030660.5:c.192C>G
|
NP_109376.1:p.His64Gln
|
|
|
NR_028453.2:n.301C>G
|
|
|
|
NR_028454.2:n.136C>G
|
|
|
|
NR_028455.2:n.301C>G
|
|
|
|
NR_028456.2:n.136C>G
|
|
|
|
NR_028457.2:n.301C>G
|
|
|
|
NR_028458.2:n.301C>G
|
|
|
|
NR_028459.2:n.387C>G
|
|
|
|
NR_028460.2:n.301C>G
|
|
|
|
NR_028461.2:n.387C>G
|
|
|
|
NR_028462.2:n.301C>G
|
|
|
|
NR_028463.2:n.55-10024C>G
|
|
|
|
NR_028464.2:n.264+2811C>G
|
|
|
|
NR_028465.2:n.256C>G
|
|
|
|
NR_028466.2:n.55-10024C>G
|
|
|
|
NR_028467.2:n.264+2811C>G
|
|
|
|
NR_028468.2:n.301C>G
|
|
|
|
NR_028469.2:n.136C>G
|
|
|
|
NR_028470.2:n.91C>G
|
|
|
|
NR_031765.2:n.55-10816C>G
|
|
|
|
NM_001127697.3:c.234+2811C>G
|
NP_001121169.2:n.234+2811C>G
|
|
|
NM_001164781.2:c.147C>G
|
NP_001158253.1:p.His49Gln
|
|
