|
NM_018972.4:c.917C>T
MANE Select
|
NP_061845.2:p.Pro306Leu
|
|
ENST00000220822.12:c.917C>T
MANE Select
|
ENSP00000220822.7:p.Pro306Leu
|
|
NM_001040875.2:c.713C>T
|
NP_001035808.1:p.Pro238Leu
|
|
NM_001040875.3:c.713C>T
|
NP_001035808.1:p.Pro238Leu
|
|
NM_001040875.4:c.713C>T
|
NP_001035808.1:p.Pro238Leu
|
|
NM_001362929.1:c.590C>T
|
NP_001349858.1:p.Pro197Leu
|
|
NM_001362929.2:c.590C>T
|
NP_001349858.1:p.Pro197Leu
|
|
NM_001362930.1:c.743C>T
|
NP_001349859.1:p.Pro248Leu
|
|
NM_001362930.2:c.743C>T
|
NP_001349859.1:p.Pro248Leu
|
|
NM_001362931.1:c.694+1154C>T
|
NP_001349860.1:n.694+1154C>T
|
|
NM_001362931.2:c.694+1154C>T
|
NP_001349860.1:n.694+1154C>T
|
|
NM_001362932.1:c.590C>T
|
NP_001349861.1:p.Pro197Leu
|
|
NM_001362932.2:c.590C>T
|
NP_001349861.1:p.Pro197Leu
|
|
NM_018972.2:c.917C>T
|
NP_061845.2:p.Pro306Leu
|
|
NM_018972.3:c.917C>T
|
NP_061845.2:p.Pro306Leu
|
|
NR_046346.1:n.851C>T
|
|
|
ENST00000220822.11:c.917C>T
|
ENSP00000220822.7:p.Pro306Leu
|
|
ENST00000434412.2:c.713C>T
|
ENSP00000417006.2:p.Pro238Leu
|
|
ENST00000434412.3:c.785C>T
|
ENSP00000417006.3:p.Pro262Leu
|
|
ENST00000520797.5:n.682C>T
|
|
|
ENST00000520797.6:n.1028C>T
|
|
|
ENST00000521096.5:n.723C>T
|
|
|
ENST00000521096.6:n.773C>T
|
|
|
ENST00000522568.1:c.*589C>T
|
ENSP00000430136.1:n.*589C>T
|
|
ENST00000522568.2:c.*545+44C>T
|
ENSP00000430136.1:n.*545+44C>T
|
|
ENST00000523640.2:c.165+12886C>T
|
ENSP00000502017.1:n.165+12886C>T
|
|
ENST00000524195.1:n.103+1154C>T
|
|
|
ENST00000524195.2:c.280+1154C>T
|
ENSP00000502308.1:n.280+1154C>T
|
|
ENST00000674612.1:c.590C>T
|
ENSP00000501864.1:p.Pro197Leu
|
|
ENST00000674710.1:c.694+1154C>T
|
ENSP00000502762.1:n.694+1154C>T
|
|
ENST00000674754.1:c.*2480C>T
|
ENSP00000502063.1:n.*2480C>T
|
|
ENST00000674756.1:c.*366+1154C>T
|
ENSP00000501860.1:n.*366+1154C>T
|
|
ENST00000674806.1:c.590C>T
|
ENSP00000502637.1:p.Pro197Leu
|
|
ENST00000674865.1:c.713C>T
|
ENSP00000502437.1:p.Pro238Leu
|
|
ENST00000674926.1:c.*1549C>T
|
ENSP00000501799.1:n.*1549C>T
|
|
ENST00000674934.1:c.*605C>T
|
ENSP00000502187.1:n.*605C>T
|
|
ENST00000674944.1:c.*1520C>T
|
ENSP00000501858.1:n.*1520C>T
|
|
ENST00000674946.1:c.694+1154C>T
|
ENSP00000501569.1:n.694+1154C>T
|
|
ENST00000674973.1:c.611C>T
|
ENSP00000502447.1:p.Pro204Leu
|
|
ENST00000675007.1:c.*655C>T
|
ENSP00000502119.1:n.*655C>T
|
|
ENST00000675060.1:c.*582C>T
|
ENSP00000501616.1:n.*582C>T
|
|
ENST00000675165.1:c.914C>T
|
ENSP00000502612.1:p.Pro305Leu
|
|
ENST00000675220.1:c.590C>T
|
ENSP00000502588.1:p.Pro197Leu
|
|
ENST00000675265.1:c.*667C>T
|
ENSP00000501848.1:n.*667C>T
|
|
ENST00000675336.1:c.*403C>T
|
ENSP00000502120.1:n.*403C>T
|
|
ENST00000675376.1:c.590C>T
|
ENSP00000502838.1:p.Pro197Leu
|
|
ENST00000675463.1:c.995C>T
|
ENSP00000502327.1:p.Pro332Leu
|
|
ENST00000675472.1:c.*403C>T
|
ENSP00000501946.1:n.*403C>T
|
|
ENST00000675474.1:n.502C>T
|
|
|
ENST00000675560.1:c.*366+1154C>T
|
ENSP00000502118.1:n.*366+1154C>T
|
|
ENST00000675625.1:c.*589C>T
|
ENSP00000501626.1:n.*589C>T
|
|
ENST00000675633.1:c.*324C>T
|
ENSP00000501785.1:n.*324C>T
|
|
ENST00000675661.1:c.*677C>T
|
ENSP00000501958.1:n.*677C>T
|
|
ENST00000675706.1:n.2875C>T
|
|
|
ENST00000675821.1:c.590C>T
|
ENSP00000502198.1:p.Pro197Leu
|
|
ENST00000675832.1:c.*589C>T
|
ENSP00000502041.1:n.*589C>T
|
|
ENST00000675928.1:c.743C>T
|
ENSP00000501568.1:p.Pro248Leu
|
|
ENST00000675944.1:c.713C>T
|
ENSP00000502673.1:p.Pro238Leu
|
|
ENST00000675999.1:c.694+1154C>T
|
ENSP00000502572.1:n.694+1154C>T
|
|
ENST00000676049.1:c.*819C>T
|
ENSP00000501912.1:n.*819C>T
|
|
ENST00000676112.1:c.983C>T
|
ENSP00000502295.1:p.Pro328Leu
|
|
ENST00000676143.1:c.590C>T
|
ENSP00000502828.1:p.Pro197Leu
|
|
ENST00000676207.1:c.694+1154C>T
|
ENSP00000502638.1:n.694+1154C>T
|
|
ENST00000676377.1:c.590C>T
|
ENSP00000502756.1:p.Pro197Leu
|
|
ENST00000676415.1:c.*223C>T
|
ENSP00000502665.1:n.*223C>T
|
|
ENST00000676443.1:c.869C>T
|
ENSP00000501769.1:p.Pro290Leu
|
|
XM_011517551.1:c.1211C>T
|
XP_011515853.1:p.Pro404Leu
|
|
XM_011517552.1:c.590C>T
|
XP_011515854.1:p.Pro197Leu
|
