ENST00000313771.10:n.1168A>C
|
|
|
ENST00000355740.8:c.*182A>C
|
ENSP00000347979.3:n.*182A>C
|
|
ENST00000357339.7:c.796A>C
|
ENSP00000349896.2:p.Lys266Gln
|
|
ENST00000371857.8:n.2404A>C
|
|
|
ENST00000460510.6:c.142A>C
|
ENSP00000512812.1:p.Lys48Gln
|
|
ENST00000466081.6:n.2508A>C
|
|
|
ENST00000477270.6:c.904A>C
|
ENSP00000512813.1:p.Lys302Gln
|
|
ENST00000479522.6:c.*288A>C
|
ENSP00000424113.1:n.*288A>C
|
|
ENST00000484444.6:c.*300A>C
|
ENSP00000420975.1:n.*300A>C
|
|
ENST00000488877.6:c.750A>C
|
ENSP00000425159.1:n.750A>C
|
|
ENST00000492756.7:c.*288A>C
|
ENSP00000422453.1:n.*288A>C
|
|
ENST00000494799.6:c.142A>C
|
ENSP00000512834.1:p.Lys48Gln
|
|
ENST00000562983.3:c.142A>C
|
ENSP00000512845.1:p.Lys48Gln
|
|
ENST00000612663.6:c.*261A>C
|
ENSP00000477997.3:n.*261A>C
|
|
ENST00000640140.2:n.1004A>C
|
|
|
ENST00000640250.2:n.358A>C
|
|
|
ENST00000640681.2:n.963A>C
|
|
|
ENST00000696723.1:n.4492A>C
|
|
|
ENST00000696741.1:n.2497A>C
|
|
|
ENST00000696742.1:n.2224A>C
|
|
|
ENST00000696743.1:n.3627A>C
|
|
|
ENST00000696744.1:n.898A>C
|
|
|
ENST00000696767.1:n.1193A>C
|
|
|
ENST00000696768.1:c.*182A>C
|
ENSP00000512859.1:n.*182A>C
|
|
ENST00000696769.1:n.2548A>C
|
|
|
ENST00000696771.1:c.142A>C
|
ENSP00000512860.1:p.Lys48Gln
|
|
ENST00000696772.1:n.2462A>C
|
|
|
ENST00000696773.1:n.2201A>C
|
|
|
ENST00000696774.1:n.5969A>C
|
|
|
ENST00000696776.1:c.952A>C
|
ENSP00000512861.1:p.Lys318Gln
|
|
ENST00000696777.1:n.2267A>C
|
|
|
ENST00000696778.1:n.1295A>C
|
|
|
ENST00000696779.1:c.466A>C
|
ENSP00000512862.1:p.Lys156Gln
|
|
ENST00000696780.1:c.889A>C
|
ENSP00000512863.1:p.Lys297Gln
|
|
ENST00000696781.1:c.604A>C
|
ENSP00000512864.1:p.Lys202Gln
|
|
ENST00000696782.1:c.*261A>C
|
ENSP00000512865.1:n.*261A>C
|
|
ENST00000696783.1:n.2727A>C
|
|
|
ENST00000696992.1:n.1976A>C
|
|
|
ENST00000696995.1:n.4388A>C
|
|
|
ENST00000696996.1:n.2301A>C
|
|
|
ENST00000696997.1:c.*489A>C
|
ENSP00000513028.1:n.*489A>C
|
|
ENST00000696998.1:n.2113A>C
|
|
|
ENST00000696999.1:c.142A>C
|
ENSP00000513029.1:p.Lys48Gln
|
|
ENST00000697035.1:c.*192A>C
|
ENSP00000513059.1:n.*192A>C
|
|
ENST00000697036.1:c.*275A>C
|
ENSP00000513060.1:n.*275A>C
|
|
ENST00000697037.1:n.894A>C
|
|
|
ENST00000697093.1:n.3095A>C
|
|
|
ENST00000697094.1:n.3442A>C
|
|
|
ENST00000697095.1:c.*2060A>C
|
ENSP00000513104.1:n.*2060A>C
|
|
ENST00000697096.1:n.1992A>C
|
|
|
ENST00000697097.1:c.142A>C
|
ENSP00000513105.1:p.Lys48Gln
|
|
ENST00000562983.2:n.1045A>C
|
|
|
ENST00000690268.1:c.940A>C
|
ENSP00000509810.1:p.Lys314Gln
|
|
ENST00000355740.7:c.*185A>C
|
ENSP00000347979.3:n.*185A>C
|
|
ENST00000612663.5:c.*261A>C
|
ENSP00000477997.3:n.*261A>C
|
|
ENST00000640140.1:n.1031A>C
|
|
|
ENST00000640250.1:n.358A>C
|
|
|
ENST00000640681.1:n.980A>C
|
|
|
ENST00000652046.1:c.859A>C
MANE Select
|
ENSP00000498466.1:p.Lys287Gln
|
|
ENST00000352159.8:c.*176A>C
|
ENSP00000345601.4:n.*176A>C
|
|
ENST00000355279.2:c.834A>C
|
ENSP00000347426.2:n.834A>C
|
|
ENST00000355740.6:c.859A>C
|
ENSP00000347979.2:p.Lys287Gln
|
|
ENST00000357339.6:c.796A>C
|
ENSP00000349896.2:p.Lys266Gln
|
|
ENST00000479522.5:c.*288A>C
|
ENSP00000424113.1:n.*288A>C
|
|
ENST00000484444.5:c.*300A>C
|
ENSP00000420975.1:n.*300A>C
|
|
ENST00000488877.5:c.*300A>C
|
ENSP00000425159.1:n.*300A>C
|
|
ENST00000492756.5:c.687A>C
|
ENSP00000422453.1:n.687A>C
|
|
ENST00000494410.5:c.*217A>C
|
ENSP00000423755.1:n.*217A>C
|
|
ENST00000612663.4:c.*206A>C
|
ENSP00000477997.2:n.*206A>C
|
|
NM_000043.4:c.859A>C , LRG_134t1:c.859A>C
|
NP_000034.1:p.Lys287Gln
|
|
NM_152871.2:c.796A>C
|
NP_690610.1:p.Lys266Gln
|
|
NM_152872.2:c.*171A>C
|
NP_690611.1:n.*171A>C
|
|
NR_028033.2:n.1033A>C
|
|
|
NR_028034.2:n.895A>C
|
|
|
NR_028035.2:n.958A>C
|
|
|
NR_028036.2:n.1096A>C
|
|
|
XM_006717819.2:c.940A>C
|
XP_006717882.1:p.Lys314Gln
|
|
XM_011539764.1:c.1021A>C
|
XP_011538066.1:p.Lys341Gln
|
|
XM_011539765.1:c.958A>C
|
XP_011538067.1:p.Lys320Gln
|
|
XM_011539766.1:c.940A>C
|
XP_011538068.1:p.Lys314Gln
|
|
XM_011539767.1:c.904A>C
|
XP_011538069.1:p.Lys302Gln
|
|
XR_945732.1:n.927A>C
|
|
|
XR_945733.1:n.864A>C
|
|
|
NM_000043.5:c.859A>C
|
NP_000034.1:p.Lys287Gln
|
|
NM_001320619.1:c.*182A>C
|
NP_001307548.1:n.*182A>C
|
|
NM_152871.3:c.796A>C
|
NP_690610.1:p.Lys266Gln
|
|
NM_152872.3:c.*171A>C
|
NP_690611.1:n.*171A>C
|
|
NR_028033.3:n.1005A>C
|
|
|
NR_028034.3:n.867A>C
|
|
|
NR_028035.3:n.930A>C
|
|
|
NR_028036.3:n.1068A>C
|
|
|
NR_135313.1:n.985A>C
|
|
|
NR_135314.1:n.1168A>C
|
|
|
NR_135315.1:n.921A>C
|
|
|
XM_006717819.3:c.940A>C
|
XP_006717882.1:p.Lys314Gln
|
|
XM_011539764.2:c.1021A>C
|
XP_011538066.1:p.Lys341Gln
|
|
XM_011539765.2:c.958A>C
|
XP_011538067.1:p.Lys320Gln
|
|
XM_011539766.2:c.940A>C
|
XP_011538068.1:p.Lys314Gln
|
|
XM_011539767.3:c.904A>C
|
XP_011538069.1:p.Lys302Gln
|
|
XR_945732.3:n.927A>C
|
|
|
XR_945733.2:n.864A>C
|
|
|
NM_000043.6:c.859A>C
MANE Select
|
NP_000034.1:p.Lys287Gln
|
|
NM_001320619.2:c.*182A>C
|
NP_001307548.1:n.*182A>C
|
|
NM_152871.4:c.796A>C
|
NP_690610.1:p.Lys266Gln
|
|
NM_152872.4:c.*171A>C
|
NP_690611.1:n.*171A>C
|
|
NR_028033.4:n.766A>C
|
|
|
NR_028034.4:n.628A>C
|
|
|
NR_028035.4:n.691A>C
|
|
|
NR_028036.4:n.829A>C
|
|
|
NR_135313.2:n.746A>C
|
|
|
NR_135314.2:n.1025A>C
|
|
|
NR_135315.2:n.778A>C
|
|
|