|
NM_000516.7:c.154G>C
MANE Select
|
NP_000507.1:p.Gly52Arg
|
|
ENST00000371085.8:c.154G>C
MANE Select
|
ENSP00000360126.3:p.Gly52Arg
|
|
NM_016592.5:c.*57G>C
MANE Plus Clinical
|
NP_057676.1:n.*57G>C
|
|
NM_080425.4:c.2083G>C
MANE Plus Clinical
|
NP_536350.2:p.Gly695Arg
|
|
ENST00000371075.7:c.*57G>C
MANE Plus Clinical
|
ENSP00000360115.3:n.*57G>C
|
|
ENST00000371100.9:c.2083G>C
MANE Plus Clinical
|
ENSP00000360141.3:p.Gly695Arg
|
|
NM_000516.4:c.154G>C
|
NP_000507.1:p.Gly52Arg
|
|
NM_000516.5:c.154G>C
|
NP_000507.1:p.Gly52Arg
|
|
NM_000516.6:c.154G>C
|
NP_000507.1:p.Gly52Arg
|
|
NM_001077488.2:c.154G>C
|
NP_001070956.1:p.Gly52Arg
|
|
NM_001077488.3:c.154G>C
|
NP_001070956.1:p.Gly52Arg
|
|
NM_001077488.4:c.154G>C
|
NP_001070956.1:p.Gly52Arg
|
|
NM_001077488.5:c.154G>C
|
NP_001070956.1:p.Gly52Arg
|
|
NM_001077489.2:c.154G>C
|
NP_001070957.1:p.Gly52Arg
|
|
NM_001077489.3:c.154G>C
|
NP_001070957.1:p.Gly52Arg
|
|
NM_001077489.4:c.154G>C
|
NP_001070957.1:p.Gly52Arg
|
|
NM_001077490.1:c.*15G>C
|
NP_001070958.1:n.*15G>C
|
|
NM_001077490.2:c.*15G>C
|
NP_001070958.1:n.*15G>C
|
|
NM_001077490.3:c.*15G>C
|
NP_001070958.1:n.*15G>C
|
|
NM_001309840.1:c.-24G>C
|
NP_001296769.1:n.-24G>C
|
|
NM_001309840.2:c.-24G>C
|
NP_001296769.1:n.-24G>C
|
|
NM_001309842.1:c.154G>C
|
NP_001296771.1:p.Gly52Arg
|
|
NM_001309842.2:c.154G>C
|
NP_001296771.1:p.Gly52Arg
|
|
NM_001309861.1:c.-24G>C
|
NP_001296790.1:n.-24G>C
|
|
NM_001309861.2:c.-24G>C
|
NP_001296790.1:n.-24G>C
|
|
NM_001309883.1:c.*173G>C
|
NP_001296812.1:n.*173G>C
|
|
NM_016592.2:c.*57G>C
|
NP_057676.1:n.*57G>C
|
|
NM_016592.3:c.*57G>C
|
NP_057676.1:n.*57G>C
|
|
NM_016592.4:c.*57G>C
|
NP_057676.1:n.*57G>C
|
|
NM_080425.2:c.2083G>C
|
NP_536350.2:p.Gly695Arg
|
|
NM_080425.3:c.2083G>C
|
NP_536350.2:p.Gly695Arg
|
|
NM_080426.2:c.154G>C
|
NP_536351.1:p.Gly52Arg
|
|
NM_080426.3:c.154G>C
|
NP_536351.1:p.Gly52Arg
|
|
NM_080426.4:c.154G>C
|
NP_536351.1:p.Gly52Arg
|
|
NR_003259.1:c.-4294967052G>C
|
|
|
NR_132272.1:n.61G>C
|
|
|
NR_132272.2:n.62G>C
|
|
|
NR_132273.1:n.421G>C
|
|
|
ENST00000265620.11:c.154G>C
|
ENSP00000265620.7:p.Gly52Arg
|
|
ENST00000306090.11:c.93+3807G>C
|
ENSP00000304472.11:n.93+3807G>C
|
|
ENST00000306090.12:c.58G>C
|
ENSP00000304472.12:p.Gly20Arg
|
|
ENST00000313949.11:c.*57G>C
|
ENSP00000323571.7:n.*57G>C
|
|
ENST00000338783.6:c.121G>C
|
ENSP00000345971.6:p.Gly41Arg
|
|
ENST00000338783.7:c.154G>C
|
ENSP00000345971.7:p.Gly52Arg
|
|
ENST00000349036.7:c.202G>C
|
ENSP00000265621.4:p.Gly68Arg
|
|
ENST00000349036.8:c.2083G>C
|
ENSP00000265621.5:p.Gly695Arg
|
|
ENST00000349036.9:c.2083G>C
|
ENSP00000265621.6:p.Gly695Arg
|
|
ENST00000354359.11:c.154G>C
|
ENSP00000346328.7:p.Gly52Arg
|
|
ENST00000354359.12:c.154G>C
|
ENSP00000346328.7:p.Gly52Arg
|
|
ENST00000371081.5:c.154G>C
|
ENSP00000360122.1:p.Gly52Arg
|
|
ENST00000371085.7:c.154G>C
|
ENSP00000360126.3:p.Gly52Arg
|
|
ENST00000371095.7:c.154G>C
|
ENSP00000360136.3:p.Gly52Arg
|
|
ENST00000371098.6:c.*57G>C
|
ENSP00000360139.2:n.*57G>C
|
|
ENST00000371100.8:c.2083G>C
|
ENSP00000360141.3:p.Gly695Arg
|
|
ENST00000371102.8:c.2083G>C
|
ENSP00000360143.4:p.Gly695Arg
|
|
ENST00000419558.5:c.398G>C
|
|
|
ENST00000419558.6:c.*57G>C
|
ENSP00000416234.2:n.*57G>C
|
|
ENST00000419558.7:c.*57G>C
|
ENSP00000416234.2:n.*57G>C
|
|
ENST00000423897.5:c.171G>C
|
|
|
ENST00000423897.6:c.2083G>C
|
ENSP00000412356.2:p.Gly695Arg
|
|
ENST00000423897.7:c.2083G>C
|
ENSP00000412356.2:p.Gly695Arg
|
|
ENST00000450130.5:c.242G>C
|
|
|
ENST00000453292.5:c.558G>C
|
ENSP00000392000.1:n.558G>C
|
|
ENST00000453292.6:c.*57G>C
|
ENSP00000392000.2:n.*57G>C
|
|
ENST00000453292.7:c.795G>C
|
ENSP00000392000.2:n.795G>C
|
|
ENST00000461152.5:n.162G>C
|
|
|
ENST00000461152.6:c.924G>C
|
ENSP00000499274.1:n.924G>C
|
|
ENST00000462499.5:n.273G>C
|
|
|
ENST00000462499.6:c.-24G>C
|
ENSP00000499758.2:n.-24G>C
|
|
ENST00000464624.6:n.2370G>C
|
|
|
ENST00000464624.7:c.2174G>C
|
ENSP00000499607.2:p.Trp725Ser
|
|
ENST00000464788.5:n.82G>C
|
|
|
ENST00000464788.6:c.-24G>C
|
ENSP00000499239.2:n.-24G>C
|
|
ENST00000464960.5:n.421G>C
|
|
|
ENST00000467227.5:n.137G>C
|
|
|
ENST00000467227.6:c.-24G>C
|
ENSP00000499681.2:n.-24G>C
|
|
ENST00000467321.5:n.169G>C
|
|
|
ENST00000467321.6:c.-24G>C
|
ENSP00000499523.2:n.-24G>C
|
|
ENST00000468895.5:n.65G>C
|
|
|
ENST00000468895.6:c.154G>C
|
ENSP00000499551.2:p.Gly52Arg
|
|
ENST00000469431.5:n.271G>C
|
|
|
ENST00000469431.6:c.-24G>C
|
ENSP00000499654.2:n.-24G>C
|
|
ENST00000470512.5:n.225G>C
|
|
|
ENST00000470512.6:c.-24G>C
|
ENSP00000499552.2:n.-24G>C
|
|
ENST00000472183.5:n.406G>C
|
|
|
ENST00000472183.6:c.-24G>C
|
ENSP00000499673.2:n.-24G>C
|
|
ENST00000476935.5:n.188G>C
|
|
|
ENST00000476935.6:c.-24G>C
|
ENSP00000499409.2:n.-24G>C
|
|
ENST00000477931.5:n.269G>C
|
|
|
ENST00000478585.5:n.209G>C
|
|
|
ENST00000478585.6:c.-24G>C
|
ENSP00000499762.2:n.-24G>C
|
|
ENST00000480232.5:n.170G>C
|
|
|
ENST00000480232.6:c.-24G>C
|
ENSP00000499545.2:n.-24G>C
|
|
ENST00000480975.5:n.198G>C
|
|
|
ENST00000481039.5:n.71G>C
|
|
|
ENST00000481039.6:c.-24G>C
|
ENSP00000499767.2:n.-24G>C
|
|
ENST00000481768.5:n.1338G>C
|
|
|
ENST00000481768.6:c.2241G>C
|
ENSP00000499644.2:p.Leu747=
|
|
ENST00000482112.5:n.273G>C
|
|
|
ENST00000482112.6:c.-24G>C
|
ENSP00000499794.2:n.-24G>C
|
|
ENST00000483387.1:n.464G>C
|
|
|
ENST00000483387.2:n.652G>C
|
|
|
ENST00000484504.5:n.142G>C
|
|
|
ENST00000485673.5:n.441G>C
|
|
|
ENST00000485673.6:c.-24G>C
|
ENSP00000499334.2:n.-24G>C
|
|
ENST00000487862.5:n.430G>C
|
|
|
ENST00000488546.5:n.55G>C
|
|
|
ENST00000488546.6:c.-24G>C
|
ENSP00000499332.2:n.-24G>C
|
|
ENST00000488652.5:n.244G>C
|
|
|
ENST00000488652.6:c.-24G>C
|
ENSP00000499435.2:n.-24G>C
|
|
ENST00000490374.5:n.269G>C
|
|
|
ENST00000490374.6:n.237G>C
|
|
|
ENST00000491348.5:n.548G>C
|
|
|
ENST00000492907.5:n.147G>C
|
|
|
ENST00000492907.6:c.-24G>C
|
ENSP00000499443.2:n.-24G>C
|
|
ENST00000493744.5:n.247G>C
|
|
|
ENST00000603546.1:c.-24G>C
|
ENSP00000474802.1:n.-24G>C
|
|
ENST00000603546.2:c.-24G>C
|
ENSP00000474802.2:n.-24G>C
|
|
ENST00000604005.5:c.-24G>C
|
ENSP00000474219.1:n.-24G>C
|
|
ENST00000604005.6:c.-24G>C
|
ENSP00000474219.2:n.-24G>C
|
|
ENST00000657090.1:c.-24G>C
|
ENSP00000499380.1:n.-24G>C
|
|
ENST00000663479.1:c.-24G>C
|
ENSP00000499353.1:n.-24G>C
|
|
ENST00000663479.2:c.-24G>C
|
ENSP00000499353.2:n.-24G>C
|
|
ENST00000667293.1:c.25G>C
|
ENSP00000499293.1:p.Gly9Arg
|
|
ENST00000667293.2:c.-24G>C
|
ENSP00000499293.2:n.-24G>C
|
|
ENST00000676826.1:c.2083G>C
|
ENSP00000504675.1:p.Gly695Arg
|
|
ENST00000676826.2:c.2083G>C
|
ENSP00000504675.2:p.Gly695Arg
|
|
ENST00000682134.1:n.2080G>C
|
|
|
ENST00000682803.1:c.-351G>C
|
ENSP00000507069.1:n.-351G>C
|
|
ENST00000682829.1:n.2527G>C
|
|
|
ENST00000683015.1:c.924G>C
|
ENSP00000506815.1:n.924G>C
|
|
ENST00000684284.1:n.2532G>C
|
|
|
XM_017027812.2:c.2083G>C
|
XP_016883301.1:p.Gly695Arg
|
|
XM_017027813.2:c.2083G>C
|
XP_016883302.1:p.Gly695Arg
|
|
XM_017027814.2:c.2083G>C
|
XP_016883303.1:p.Gly695Arg
|
|
XM_017027815.1:c.58G>C
|
XP_016883304.1:p.Gly20Arg
|
|
XM_017027816.1:c.-151G>C
|
XP_016883305.1:n.-151G>C
|
|
XM_017027817.1:c.-24G>C
|
XP_016883306.1:n.-24G>C
|
|
XM_017027818.2:c.-24G>C
|
XP_016883307.1:n.-24G>C
|
|
XM_017027819.1:c.-24G>C
|
XP_016883308.1:n.-24G>C
|
|
XM_017027820.1:c.-106G>C
|
XP_016883309.1:n.-106G>C
|
|
XM_017027821.1:c.*57G>C
|
XP_016883310.1:n.*57G>C
|
|
XM_017027822.1:c.*57G>C
|
XP_016883311.1:n.*57G>C
|
|
XM_024451872.1:c.58G>C
|
XP_024307640.1:p.Gly20Arg
|
|
XM_024451873.1:c.-24G>C
|
XP_024307641.1:n.-24G>C
|
|
XM_024451874.1:c.-24G>C
|
XP_024307642.1:n.-24G>C
|
|
XM_024451875.1:c.-24G>C
|
XP_024307643.1:n.-24G>C
|
|
XR_002958471.1:n.779G>C
|
|
