ENST00000313771.10:n.1183G>A
|
|
|
ENST00000355740.8:c.*197G>A
|
ENSP00000347979.3:n.*197G>A
|
|
ENST00000357339.7:c.811G>A
|
ENSP00000349896.2:p.Asp271Asn
|
|
ENST00000371857.8:n.2419G>A
|
|
|
ENST00000460510.6:c.157G>A
|
ENSP00000512812.1:p.Asp53Asn
|
|
ENST00000466081.6:n.2523G>A
|
|
|
ENST00000477270.6:c.919G>A
|
ENSP00000512813.1:p.Asp307Asn
|
|
ENST00000479522.6:c.*303G>A
|
ENSP00000424113.1:n.*303G>A
|
|
ENST00000484444.6:c.*315G>A
|
ENSP00000420975.1:n.*315G>A
|
|
ENST00000488877.6:c.765G>A
|
ENSP00000425159.1:n.765G>A
|
|
ENST00000492756.7:c.*303G>A
|
ENSP00000422453.1:n.*303G>A
|
|
ENST00000494799.6:c.157G>A
|
ENSP00000512834.1:p.Asp53Asn
|
|
ENST00000562983.3:c.157G>A
|
ENSP00000512845.1:p.Asp53Asn
|
|
ENST00000612663.6:c.*276G>A
|
ENSP00000477997.3:n.*276G>A
|
|
ENST00000640140.2:n.1019G>A
|
|
|
ENST00000640250.2:n.373G>A
|
|
|
ENST00000640681.2:n.978G>A
|
|
|
ENST00000696723.1:n.4507G>A
|
|
|
ENST00000696741.1:n.2512G>A
|
|
|
ENST00000696742.1:n.2239G>A
|
|
|
ENST00000696743.1:n.3642G>A
|
|
|
ENST00000696744.1:n.913G>A
|
|
|
ENST00000696767.1:n.1208G>A
|
|
|
ENST00000696768.1:c.*197G>A
|
ENSP00000512859.1:n.*197G>A
|
|
ENST00000696769.1:n.2563G>A
|
|
|
ENST00000696771.1:c.157G>A
|
ENSP00000512860.1:p.Asp53Asn
|
|
ENST00000696772.1:n.2477G>A
|
|
|
ENST00000696773.1:n.2216G>A
|
|
|
ENST00000696774.1:n.5984G>A
|
|
|
ENST00000696776.1:c.967G>A
|
ENSP00000512861.1:p.Asp323Asn
|
|
ENST00000696777.1:n.2282G>A
|
|
|
ENST00000696778.1:n.1310G>A
|
|
|
ENST00000696779.1:c.481G>A
|
ENSP00000512862.1:p.Asp161Asn
|
|
ENST00000696780.1:c.904G>A
|
ENSP00000512863.1:p.Asp302Asn
|
|
ENST00000696781.1:c.619G>A
|
ENSP00000512864.1:p.Asp207Asn
|
|
ENST00000696782.1:c.*276G>A
|
ENSP00000512865.1:n.*276G>A
|
|
ENST00000696783.1:n.2742G>A
|
|
|
ENST00000696992.1:n.1991G>A
|
|
|
ENST00000696995.1:n.4403G>A
|
|
|
ENST00000696996.1:n.2316G>A
|
|
|
ENST00000696997.1:c.*504G>A
|
ENSP00000513028.1:n.*504G>A
|
|
ENST00000696998.1:n.2128G>A
|
|
|
ENST00000696999.1:c.157G>A
|
ENSP00000513029.1:p.Asp53Asn
|
|
ENST00000697036.1:c.*290G>A
|
ENSP00000513060.1:n.*290G>A
|
|
ENST00000697037.1:n.909G>A
|
|
|
ENST00000697093.1:n.3110G>A
|
|
|
ENST00000697094.1:n.3457G>A
|
|
|
ENST00000697095.1:c.*2075G>A
|
ENSP00000513104.1:n.*2075G>A
|
|
ENST00000697096.1:n.2007G>A
|
|
|
ENST00000697097.1:c.157G>A
|
ENSP00000513105.1:p.Asp53Asn
|
|
ENST00000562983.2:n.1060G>A
|
|
|
ENST00000690268.1:c.955G>A
|
ENSP00000509810.1:p.Asp319Asn
|
|
ENST00000355740.7:c.*200G>A
|
ENSP00000347979.3:n.*200G>A
|
|
ENST00000612663.5:c.*276G>A
|
ENSP00000477997.3:n.*276G>A
|
|
ENST00000640140.1:n.1046G>A
|
|
|
ENST00000640250.1:n.373G>A
|
|
|
ENST00000640681.1:n.995G>A
|
|
|
ENST00000652046.1:c.874G>A
MANE Select
|
ENSP00000498466.1:p.Asp292Asn
|
|
ENST00000352159.8:c.*191G>A
|
ENSP00000345601.4:n.*191G>A
|
|
ENST00000355279.2:c.849G>A
|
ENSP00000347426.2:n.849G>A
|
|
ENST00000355740.6:c.874G>A
|
ENSP00000347979.2:p.Asp292Asn
|
|
ENST00000357339.6:c.811G>A
|
ENSP00000349896.2:p.Asp271Asn
|
|
ENST00000479522.5:c.*303G>A
|
ENSP00000424113.1:n.*303G>A
|
|
ENST00000484444.5:c.*315G>A
|
ENSP00000420975.1:n.*315G>A
|
|
ENST00000488877.5:c.*315G>A
|
ENSP00000425159.1:n.*315G>A
|
|
ENST00000492756.5:c.702G>A
|
ENSP00000422453.1:n.702G>A
|
|
ENST00000494410.5:c.*232G>A
|
ENSP00000423755.1:n.*232G>A
|
|
ENST00000612663.4:c.*221G>A
|
ENSP00000477997.2:n.*221G>A
|
|
NM_000043.4:c.874G>A , LRG_134t1:c.874G>A
|
NP_000034.1:p.Asp292Asn
|
|
NM_152871.2:c.811G>A
|
NP_690610.1:p.Asp271Asn
|
|
NM_152872.2:c.*186G>A
|
NP_690611.1:n.*186G>A
|
|
NR_028033.2:n.1048G>A
|
|
|
NR_028034.2:n.910G>A
|
|
|
NR_028035.2:n.973G>A
|
|
|
NR_028036.2:n.1111G>A
|
|
|
XM_006717819.2:c.955G>A
|
XP_006717882.1:p.Asp319Asn
|
|
XM_011539764.1:c.1036G>A
|
XP_011538066.1:p.Asp346Asn
|
|
XM_011539765.1:c.973G>A
|
XP_011538067.1:p.Asp325Asn
|
|
XM_011539766.1:c.955G>A
|
XP_011538068.1:p.Asp319Asn
|
|
XM_011539767.1:c.919G>A
|
XP_011538069.1:p.Asp307Asn
|
|
XR_945732.1:n.942G>A
|
|
|
XR_945733.1:n.879G>A
|
|
|
NM_000043.5:c.874G>A
|
NP_000034.1:p.Asp292Asn
|
|
NM_001320619.1:c.*197G>A
|
NP_001307548.1:n.*197G>A
|
|
NM_152871.3:c.811G>A
|
NP_690610.1:p.Asp271Asn
|
|
NM_152872.3:c.*186G>A
|
NP_690611.1:n.*186G>A
|
|
NR_028033.3:n.1020G>A
|
|
|
NR_028034.3:n.882G>A
|
|
|
NR_028035.3:n.945G>A
|
|
|
NR_028036.3:n.1083G>A
|
|
|
NR_135313.1:n.1000G>A
|
|
|
NR_135314.1:n.1183G>A
|
|
|
NR_135315.1:n.936G>A
|
|
|
XM_006717819.3:c.955G>A
|
XP_006717882.1:p.Asp319Asn
|
|
XM_011539764.2:c.1036G>A
|
XP_011538066.1:p.Asp346Asn
|
|
XM_011539765.2:c.973G>A
|
XP_011538067.1:p.Asp325Asn
|
|
XM_011539766.2:c.955G>A
|
XP_011538068.1:p.Asp319Asn
|
|
XM_011539767.3:c.919G>A
|
XP_011538069.1:p.Asp307Asn
|
|
XR_945732.3:n.942G>A
|
|
|
XR_945733.2:n.879G>A
|
|
|
NM_000043.6:c.874G>A
MANE Select
|
NP_000034.1:p.Asp292Asn
|
|
NM_001320619.2:c.*197G>A
|
NP_001307548.1:n.*197G>A
|
|
NM_152871.4:c.811G>A
|
NP_690610.1:p.Asp271Asn
|
|
NM_152872.4:c.*186G>A
|
NP_690611.1:n.*186G>A
|
|
NR_028033.4:n.781G>A
|
|
|
NR_028034.4:n.643G>A
|
|
|
NR_028035.4:n.706G>A
|
|
|
NR_028036.4:n.844G>A
|
|
|
NR_135313.2:n.761G>A
|
|
|
NR_135314.2:n.1040G>A
|
|
|
NR_135315.2:n.793G>A
|
|
|