|
NM_005050.4:c.454C>T
MANE Select
|
NP_005041.1:p.Arg152Ter
|
|
ENST00000356924.9:c.454C>T
MANE Select
|
ENSP00000349396.4:p.Arg152Ter
|
|
NM_001353591.1:c.454C>T
|
NP_001340520.1:p.Arg152Ter
|
|
NM_001353591.2:c.454C>T
|
NP_001340520.1:p.Arg152Ter
|
|
NM_001353592.1:c.454C>T
|
NP_001340521.1:p.Arg152Ter
|
|
NM_001353592.2:c.454C>T
|
NP_001340521.1:p.Arg152Ter
|
|
NM_001353593.1:c.193C>T
|
NP_001340522.1:p.Arg65Ter
|
|
NM_001353593.2:c.193C>T
|
NP_001340522.1:p.Arg65Ter
|
|
NM_001353594.1:c.193C>T
|
NP_001340523.1:p.Arg65Ter
|
|
NM_001353594.2:c.193C>T
|
NP_001340523.1:p.Arg65Ter
|
|
NM_001353595.1:c.45C>T
|
NP_001340524.1:p.Ser15=
|
|
NM_001353595.2:c.45C>T
|
NP_001340524.1:p.Ser15=
|
|
NM_001353596.1:c.45C>T
|
NP_001340525.1:p.Ser15=
|
|
NM_001353596.2:c.45C>T
|
NP_001340525.1:p.Ser15=
|
|
NM_001353597.1:c.45C>T
|
NP_001340526.1:p.Ser15=
|
|
NM_001353597.2:c.45C>T
|
NP_001340526.1:p.Ser15=
|
|
NM_001353598.1:c.-24C>T
|
NP_001340527.1:n.-24C>T
|
|
NM_001353598.2:c.-24C>T
|
NP_001340527.1:n.-24C>T
|
|
NM_001353599.1:c.-24C>T
|
NP_001340528.1:n.-24C>T
|
|
NM_001353599.2:c.-24C>T
|
NP_001340528.1:n.-24C>T
|
|
NM_001353600.1:c.-24C>T
|
NP_001340529.1:n.-24C>T
|
|
NM_001353600.2:c.-24C>T
|
NP_001340529.1:n.-24C>T
|
|
NM_001353601.1:c.-24C>T
|
NP_001340530.1:n.-24C>T
|
|
NM_001353601.2:c.-24C>T
|
NP_001340530.1:n.-24C>T
|
|
NM_001353602.1:c.-236C>T
|
NP_001340531.1:n.-236C>T
|
|
NM_001353602.2:c.-236C>T
|
NP_001340531.1:n.-236C>T
|
|
NM_001353603.1:c.-241C>T
|
NP_001340532.1:n.-241C>T
|
|
NM_001353603.2:c.-241C>T
|
NP_001340532.1:n.-241C>T
|
|
NM_001353604.1:c.-241C>T
|
NP_001340533.1:n.-241C>T
|
|
NM_001353604.2:c.-241C>T
|
NP_001340533.1:n.-241C>T
|
|
NM_001353605.1:c.-241C>T
|
NP_001340534.1:n.-241C>T
|
|
NM_001353605.2:c.-241C>T
|
NP_001340534.1:n.-241C>T
|
|
NM_001353606.1:c.-241C>T
|
NP_001340535.1:n.-241C>T
|
|
NM_001353606.2:c.-241C>T
|
NP_001340535.1:n.-241C>T
|
|
NM_001353607.1:c.-241C>T
|
NP_001340536.1:n.-241C>T
|
|
NM_001353607.2:c.-241C>T
|
NP_001340536.1:n.-241C>T
|
|
NM_001353608.1:c.-236C>T
|
NP_001340537.1:n.-236C>T
|
|
NM_001353608.2:c.-236C>T
|
NP_001340537.1:n.-236C>T
|
|
NM_001353609.1:c.-241C>T
|
NP_001340538.1:n.-241C>T
|
|
NM_001353609.2:c.-241C>T
|
NP_001340538.1:n.-241C>T
|
|
NM_001353610.1:c.-241C>T
|
NP_001340539.1:n.-241C>T
|
|
NM_001353610.2:c.-241C>T
|
NP_001340539.1:n.-241C>T
|
|
NM_005050.3:c.454C>T
|
NP_005041.1:p.Arg152Ter
|
|
NM_020324.2:c.-24C>T
|
NP_064720.1:n.-24C>T
|
|
NM_020324.3:c.-24C>T
|
NP_064720.1:n.-24C>T
|
|
NM_020325.2:c.454C>T
|
NP_064730.1:p.Arg152Ter
|
|
NM_020325.3:c.454C>T
|
NP_064730.1:p.Arg152Ter
|
|
NR_003256.2:n.478C>T
|
|
|
NR_003256.3:n.348C>T
|
|
|
NR_148466.1:n.606C>T
|
|
|
NR_148466.2:n.476C>T
|
|
|
NR_148467.1:n.338C>T
|
|
|
NR_148467.2:n.208C>T
|
|
|
NR_148468.1:n.359C>T
|
|
|
NR_148468.2:n.229C>T
|
|
|
NR_148469.1:n.606C>T
|
|
|
NR_148469.2:n.476C>T
|
|
|
NR_148470.1:n.478C>T
|
|
|
NR_148470.2:n.348C>T
|
|
|
NR_148471.1:n.606C>T
|
|
|
NR_148471.2:n.476C>T
|
|
|
NR_148472.1:n.560C>T
|
|
|
NR_148472.2:n.430C>T
|
|
|
NR_148473.1:n.487C>T
|
|
|
NR_148473.2:n.357C>T
|
|
|
NR_148474.1:n.606C>T
|
|
|
NR_148474.2:n.476C>T
|
|
|
ENST00000356924.8:c.454C>T
|
ENSP00000349396.4:p.Arg152Ter
|
|
ENST00000460308.6:c.*155C>T
|
ENSP00000436527.2:n.*155C>T
|
|
ENST00000469672.5:c.*75C>T
|
ENSP00000434626.1:n.*75C>T
|
|
ENST00000470637.1:c.*446C>T
|
ENSP00000432630.1:n.*446C>T
|
|
ENST00000475240.5:n.208C>T
|
|
|
ENST00000481935.5:c.*155C>T
|
ENSP00000436782.1:n.*155C>T
|
|
ENST00000489678.1:n.1649C>T
|
|
|
ENST00000553486.5:c.*155C>T
|
ENSP00000450611.1:n.*155C>T
|
|
ENST00000553745.5:c.*215C>T
|
ENSP00000451778.1:n.*215C>T
|
|
ENST00000554453.5:c.186C>T
|
ENSP00000451457.1:p.Ser62=
|
|
ENST00000555617.5:c.*75C>T
|
ENSP00000451521.1:n.*75C>T
|
|
ENST00000556119.5:c.*75C>T
|
ENSP00000450491.1:n.*75C>T
|
|
ENST00000556971.1:c.333C>T
|
|
|
ENST00000557554.5:n.370+3127C>T
|
|
|
ENST00000557588.5:c.454C>T
|
ENSP00000451993.1:p.Arg152Ter
|
|
XM_005267938.3:c.454C>T
|
XP_005267995.1:p.Arg152Ter
|
|
XM_005267939.2:c.45C>T
|
XP_005267996.1:p.Ser15=
|
|
XM_005267940.2:c.45C>T
|
XP_005267997.1:p.Ser15=
|
|
XM_005267940.3:c.45C>T
|
XP_005267997.1:p.Ser15=
|
|
XM_005267941.3:c.45C>T
|
XP_005267998.1:p.Ser15=
|
|
XM_005267942.3:c.45C>T
|
XP_005267999.1:p.Ser15=
|
|
XM_005267942.4:c.45C>T
|
XP_005267999.1:p.Ser15=
|
|
XM_005267946.2:c.-24C>T
|
XP_005268003.1:n.-24C>T
|
|
XM_005267949.2:c.-24C>T
|
XP_005268006.1:n.-24C>T
|
|
XM_005267953.2:c.-236C>T
|
XP_005268010.1:n.-236C>T
|
|
XM_006720223.1:c.193C>T
|
XP_006720286.1:p.Arg65Ter
|
|
XM_011537041.1:c.186C>T
|
XP_011535343.1:p.Ser62=
|
|
XM_011537041.2:c.186C>T
|
XP_011535343.1:p.Ser62=
|
|
XM_011537042.1:c.-24C>T
|
XP_011535344.1:n.-24C>T
|
|
XM_011537043.1:c.-241C>T
|
XP_011535345.1:n.-241C>T
|
|
XM_017021531.2:c.454C>T
|
XP_016877020.1:p.Arg152Ter
|
|
XM_017021534.1:c.-154C>T
|
XP_016877023.1:n.-154C>T
|
|
XM_017021539.1:c.-236C>T
|
XP_016877028.1:n.-236C>T
|
|
XM_017021540.2:c.-241C>T
|
XP_016877029.1:n.-241C>T
|
|
XM_017021541.2:c.-115C>T
|
XP_016877030.1:n.-115C>T
|
|
XM_017021542.1:c.-115C>T
|
XP_016877031.1:n.-115C>T
|
|
XM_024449675.1:c.193C>T
|
XP_024305443.1:p.Arg65Ter
|
|
XM_024449676.1:c.-24C>T
|
XP_024305444.1:n.-24C>T
|
|
XM_024449677.1:c.-24C>T
|
XP_024305445.1:n.-24C>T
|
|
XM_024449678.1:c.-241C>T
|
XP_024305446.1:n.-241C>T
|
|
XM_024449679.1:c.-115C>T
|
XP_024305447.1:n.-115C>T
|
|
XR_001750476.2:n.529C>T
|
|
|
XR_001750478.2:n.529C>T
|
|
|
XR_001750480.2:n.529C>T
|
|
|
XR_001750481.2:n.529C>T
|
|
|
XR_001750482.1:n.464C>T
|
|
|
XR_001750484.1:n.409C>T
|
|
|
XR_002957565.1:n.518C>T
|
|
|
XR_245710.2:n.539C>T
|
|
|
XR_245710.4:n.529C>T
|
|
|
XR_943500.1:n.539C>T
|
|
|
XR_943500.3:n.529C>T
|
|
