ENST00000313771.10:n.1015A>C
|
|
|
ENST00000355740.8:c.*29A>C
|
ENSP00000347979.3:n.*29A>C
|
|
ENST00000357339.7:c.643A>C
|
ENSP00000349896.2:p.Ile215Leu
|
|
ENST00000371857.8:n.2251A>C
|
|
|
ENST00000460510.6:c.-12A>C
|
ENSP00000512812.1:n.-12A>C
|
|
ENST00000466081.6:n.2355A>C
|
|
|
ENST00000477270.6:c.751A>C
|
ENSP00000512813.1:p.Ile251Leu
|
|
ENST00000479522.6:c.*135A>C
|
ENSP00000424113.1:n.*135A>C
|
|
ENST00000484444.6:c.*147A>C
|
ENSP00000420975.1:n.*147A>C
|
|
ENST00000488877.6:c.597A>C
|
ENSP00000425159.1:n.597A>C
|
|
ENST00000492756.7:c.*135A>C
|
ENSP00000422453.1:n.*135A>C
|
|
ENST00000494799.6:c.-12A>C
|
ENSP00000512834.1:n.-12A>C
|
|
ENST00000562983.3:c.-12A>C
|
ENSP00000512845.1:n.-12A>C
|
|
ENST00000612663.6:c.*108A>C
|
ENSP00000477997.3:n.*108A>C
|
|
ENST00000640140.2:n.851A>C
|
|
|
ENST00000640250.2:n.205A>C
|
|
|
ENST00000640681.2:n.810A>C
|
|
|
ENST00000696723.1:n.4339A>C
|
|
|
ENST00000696741.1:n.2344A>C
|
|
|
ENST00000696742.1:n.2071A>C
|
|
|
ENST00000696743.1:n.3474A>C
|
|
|
ENST00000696744.1:n.745A>C
|
|
|
ENST00000696767.1:n.1040A>C
|
|
|
ENST00000696768.1:c.*29A>C
|
ENSP00000512859.1:n.*29A>C
|
|
ENST00000696769.1:n.2395A>C
|
|
|
ENST00000696771.1:c.-12A>C
|
ENSP00000512860.1:n.-12A>C
|
|
ENST00000696772.1:n.2309A>C
|
|
|
ENST00000696773.1:n.2048A>C
|
|
|
ENST00000696774.1:n.5816A>C
|
|
|
ENST00000696776.1:c.799A>C
|
ENSP00000512861.1:p.Ile267Leu
|
|
ENST00000696777.1:n.2114A>C
|
|
|
ENST00000696778.1:n.1142A>C
|
|
|
ENST00000696779.1:c.313A>C
|
ENSP00000512862.1:p.Ile105Leu
|
|
ENST00000696780.1:c.736A>C
|
ENSP00000512863.1:p.Ile246Leu
|
|
ENST00000696781.1:c.451A>C
|
ENSP00000512864.1:p.Ile151Leu
|
|
ENST00000696782.1:c.*108A>C
|
ENSP00000512865.1:n.*108A>C
|
|
ENST00000696783.1:n.2574A>C
|
|
|
ENST00000696992.1:n.1823A>C
|
|
|
ENST00000696995.1:n.4235A>C
|
|
|
ENST00000696996.1:n.2148A>C
|
|
|
ENST00000696997.1:c.*336A>C
|
ENSP00000513028.1:n.*336A>C
|
|
ENST00000696998.1:n.1960A>C
|
|
|
ENST00000696999.1:c.-12A>C
|
ENSP00000513029.1:n.-12A>C
|
|
ENST00000697035.1:c.*39A>C
|
ENSP00000513059.1:n.*39A>C
|
|
ENST00000697036.1:c.*122A>C
|
ENSP00000513060.1:n.*122A>C
|
|
ENST00000697037.1:n.741A>C
|
|
|
ENST00000697093.1:n.2942A>C
|
|
|
ENST00000697094.1:n.3289A>C
|
|
|
ENST00000697095.1:c.*1907A>C
|
ENSP00000513104.1:n.*1907A>C
|
|
ENST00000697096.1:n.1839A>C
|
|
|
ENST00000697097.1:c.-12A>C
|
ENSP00000513105.1:n.-12A>C
|
|
ENST00000562983.2:n.892A>C
|
|
|
ENST00000690268.1:c.787A>C
|
ENSP00000509810.1:p.Ile263Leu
|
|
ENST00000355740.7:c.*32A>C
|
ENSP00000347979.3:n.*32A>C
|
|
ENST00000612663.5:c.*108A>C
|
ENSP00000477997.3:n.*108A>C
|
|
ENST00000640140.1:n.878A>C
|
|
|
ENST00000640250.1:n.205A>C
|
|
|
ENST00000640681.1:n.827A>C
|
|
|
ENST00000652046.1:c.706A>C
MANE Select
|
ENSP00000498466.1:p.Ile236Leu
|
|
ENST00000313771.9:n.1015A>C
|
|
|
ENST00000352159.8:c.*23A>C
|
ENSP00000345601.4:n.*23A>C
|
|
ENST00000355279.2:c.681A>C
|
ENSP00000347426.2:n.681A>C
|
|
ENST00000355740.6:c.706A>C
|
ENSP00000347979.2:p.Ile236Leu
|
|
ENST00000357339.6:c.643A>C
|
ENSP00000349896.2:p.Ile215Leu
|
|
ENST00000479522.5:c.*135A>C
|
ENSP00000424113.1:n.*135A>C
|
|
ENST00000484444.5:c.*147A>C
|
ENSP00000420975.1:n.*147A>C
|
|
ENST00000488877.5:c.*147A>C
|
ENSP00000425159.1:n.*147A>C
|
|
ENST00000492756.5:c.534A>C
|
ENSP00000422453.1:n.534A>C
|
|
ENST00000494410.5:c.*64A>C
|
ENSP00000423755.1:n.*64A>C
|
|
ENST00000494799.5:n.613A>C
|
|
|
ENST00000612663.4:c.*53A>C
|
ENSP00000477997.2:n.*53A>C
|
|
ENST00000615406.4:c.706A>C
|
ENSP00000484575.1:p.Ile236Leu
|
|
ENST00000626542.2:c.704A>C
|
ENSP00000485876.1:p.Tyr235Ser
|
|
NM_000043.4:c.706A>C , LRG_134t1:c.706A>C
|
NP_000034.1:p.Ile236Leu
|
|
NM_152871.2:c.643A>C
|
NP_690610.1:p.Ile215Leu
|
|
NM_152872.2:c.*18A>C
|
NP_690611.1:n.*18A>C
|
|
NR_028033.2:n.880A>C
|
|
|
NR_028034.2:n.742A>C
|
|
|
NR_028035.2:n.805A>C
|
|
|
NR_028036.2:n.943A>C
|
|
|
XM_006717819.2:c.787A>C
|
XP_006717882.1:p.Ile263Leu
|
|
XM_011539764.1:c.868A>C
|
XP_011538066.1:p.Ile290Leu
|
|
XM_011539765.1:c.805A>C
|
XP_011538067.1:p.Ile269Leu
|
|
XM_011539766.1:c.787A>C
|
XP_011538068.1:p.Ile263Leu
|
|
XM_011539767.1:c.751A>C
|
XP_011538069.1:p.Ile251Leu
|
|
XR_945732.1:n.774A>C
|
|
|
XR_945733.1:n.711A>C
|
|
|
NM_000043.5:c.706A>C
|
NP_000034.1:p.Ile236Leu
|
|
NM_001320619.1:c.*29A>C
|
NP_001307548.1:n.*29A>C
|
|
NM_152871.3:c.643A>C
|
NP_690610.1:p.Ile215Leu
|
|
NM_152872.3:c.*18A>C
|
NP_690611.1:n.*18A>C
|
|
NR_028033.3:n.852A>C
|
|
|
NR_028034.3:n.714A>C
|
|
|
NR_028035.3:n.777A>C
|
|
|
NR_028036.3:n.915A>C
|
|
|
NR_135313.1:n.832A>C
|
|
|
NR_135314.1:n.1015A>C
|
|
|
NR_135315.1:n.768A>C
|
|
|
XM_006717819.3:c.787A>C
|
XP_006717882.1:p.Ile263Leu
|
|
XM_011539764.2:c.868A>C
|
XP_011538066.1:p.Ile290Leu
|
|
XM_011539765.2:c.805A>C
|
XP_011538067.1:p.Ile269Leu
|
|
XM_011539766.2:c.787A>C
|
XP_011538068.1:p.Ile263Leu
|
|
XM_011539767.3:c.751A>C
|
XP_011538069.1:p.Ile251Leu
|
|
XR_945732.3:n.774A>C
|
|
|
XR_945733.2:n.711A>C
|
|
|
NM_000043.6:c.706A>C
MANE Select
|
NP_000034.1:p.Ile236Leu
|
|
NM_001320619.2:c.*29A>C
|
NP_001307548.1:n.*29A>C
|
|
NM_152871.4:c.643A>C
|
NP_690610.1:p.Ile215Leu
|
|
NM_152872.4:c.*18A>C
|
NP_690611.1:n.*18A>C
|
|
NR_028033.4:n.613A>C
|
|
|
NR_028034.4:n.475A>C
|
|
|
NR_028035.4:n.538A>C
|
|
|
NR_028036.4:n.676A>C
|
|
|
NR_135313.2:n.593A>C
|
|
|
NR_135314.2:n.872A>C
|
|
|
NR_135315.2:n.625A>C
|
|
|