|
ENST00000273588.9:c.574C>A
MANE Select
|
ENSP00000273588.3:p.Gln192Lys
|
|
|
ENST00000395338.7:c.574C>A
|
ENSP00000378747.2:p.Gln192Lys
|
|
|
ENST00000399379.7:c.353-47C>A
|
ENSP00000399943.2:n.353-47C>A
|
|
|
ENST00000427987.6:c.430C>A
|
ENSP00000403821.2:p.Gln144Lys
|
|
|
ENST00000430521.2:c.*376C>A
|
ENSP00000388068.2:n.*376C>A
|
|
|
ENST00000465925.6:n.2468C>A
|
|
|
|
ENST00000473163.2:n.3082C>A
|
|
|
|
ENST00000476127.6:n.850-47C>A
|
|
|
|
ENST00000476226.6:n.995C>A
|
|
|
|
ENST00000476828.2:n.1273C>A
|
|
|
|
ENST00000478594.6:n.1001C>A
|
|
|
|
ENST00000480957.6:n.2467C>A
|
|
|
|
ENST00000487589.6:n.487C>A
|
|
|
|
ENST00000491800.3:n.3091C>A
|
|
|
|
ENST00000493046.6:n.2749+328C>A
|
|
|
|
ENST00000538581.6:c.430C>A
|
ENSP00000443200.2:p.Gln144Lys
|
|
|
ENST00000635772.1:n.1304C>A
|
|
|
|
ENST00000635798.1:n.269C>A
|
|
|
|
ENST00000635808.1:c.493C>A
|
ENSP00000489620.1:p.Gln165Lys
|
|
|
ENST00000635889.1:n.1005C>A
|
|
|
|
ENST00000635907.1:n.469C>A
|
|
|
|
ENST00000635936.1:n.965-231C>A
|
|
|
|
ENST00000636023.1:c.551-231C>A
|
ENSP00000489969.1:n.551-231C>A
|
|
|
ENST00000636070.1:c.*354C>A
|
ENSP00000490160.1:n.*354C>A
|
|
|
ENST00000636148.1:n.2519C>A
|
|
|
|
ENST00000636166.1:c.811C>A
|
ENSP00000490106.1:p.Gln271Lys
|
|
|
ENST00000636199.1:c.259-231C>A
|
ENSP00000490871.1:n.259-231C>A
|
|
|
ENST00000636204.1:n.1856C>A
|
|
|
|
ENST00000636461.1:c.4108C>A
|
|
|
|
ENST00000636522.1:c.406C>A
|
ENSP00000489758.1:p.Gln136Lys
|
|
|
ENST00000636587.1:n.783-231C>A
|
|
|
|
ENST00000636597.1:c.550+328C>A
|
ENSP00000490251.1:n.550+328C>A
|
|
|
ENST00000636725.1:n.1290C>A
|
|
|
|
ENST00000636803.1:n.963-47C>A
|
|
|
|
ENST00000636865.1:c.418C>A
|
ENSP00000490601.1:p.Gln140Lys
|
|
|
ENST00000636871.1:n.939C>A
|
|
|
|
ENST00000636978.1:n.578C>A
|
|
|
|
ENST00000636991.1:n.1019C>A
|
|
|
|
ENST00000637059.1:c.149-231C>A
|
ENSP00000490153.1:n.149-231C>A
|
|
|
ENST00000637088.1:n.5386C>A
|
|
|
|
ENST00000637114.1:n.566C>A
|
|
|
|
ENST00000637268.1:n.1305C>A
|
|
|
|
ENST00000637291.1:n.1308C>A
|
|
|
|
ENST00000637442.1:n.2795C>A
|
|
|
|
ENST00000637455.1:c.385C>A
|
ENSP00000489628.1:p.Gln129Lys
|
|
|
ENST00000637457.1:n.1327C>A
|
|
|
|
ENST00000637682.1:c.574C>A
|
ENSP00000489856.1:p.Gln192Lys
|
|
|
ENST00000637684.1:n.676C>A
|
|
|
|
ENST00000637821.1:c.*776C>A
|
ENSP00000490482.1:n.*776C>A
|
|
|
ENST00000637914.1:n.2468C>A
|
|
|
|
ENST00000637982.1:n.988C>A
|
|
|
|
ENST00000637994.1:n.1006C>A
|
|
|
|
ENST00000638014.1:c.3355C>A
|
|
|
|
ENST00000638063.1:c.493C>A
|
ENSP00000489760.1:p.Gln165Lys
|
|
|
ENST00000638079.1:c.*1086C>A
|
ENSP00000490120.1:n.*1086C>A
|
|
|
ENST00000638092.1:n.986C>A
|
|
|
|
ENST00000638115.1:c.*2335C>A
|
ENSP00000490296.1:n.*2335C>A
|
|
|
ENST00000273588.7:c.574C>A
|
ENSP00000273588.3:p.Gln192Lys
|
|
|
ENST00000395338.6:c.574C>A
|
ENSP00000378747.2:p.Gln192Lys
|
|
|
ENST00000399379.6:c.*354C>A
|
ENSP00000399943.1:n.*354C>A
|
|
|
ENST00000427987.5:c.566C>A
|
|
|
|
ENST00000430521.1:c.406C>A
|
ENSP00000388068.1:p.Gln136Lys
|
|
|
ENST00000458307.6:c.442C>A
|
ENSP00000415619.2:p.Gln148Lys
|
|
|
ENST00000461210.1:n.756C>A
|
|
|
|
ENST00000465925.5:n.1764C>A
|
|
|
|
ENST00000476127.5:n.333C>A
|
|
|
|
ENST00000476226.5:n.639C>A
|
|
|
|
ENST00000478594.5:n.990C>A
|
|
|
|
ENST00000487589.5:n.676C>A
|
|
|
|
ENST00000491800.2:n.24C>A
|
|
|
|
ENST00000495436.5:n.532C>A
|
|
|
|
ENST00000538581.5:c.406C>A
|
ENSP00000443200.1:p.Gln136Lys
|
|
|
NM_000481.3:c.574C>A , LRG_537t1:c.574C>A
|
NP_000472.2:p.Gln192Lys
|
|
|
NM_001164710.1:c.442C>A
|
NP_001158182.1:p.Gln148Lys
|
|
|
NM_001164711.1:c.406C>A
|
NP_001158183.1:p.Gln136Lys
|
|
|
NM_001164712.1:c.574C>A
|
NP_001158184.1:p.Gln192Lys
|
|
|
NR_028435.1:n.788C>A
|
|
|
|
NM_000481.4:c.574C>A
MANE Select
|
NP_000472.2:p.Gln192Lys
|
|
|
NM_001164710.2:c.442C>A
|
NP_001158182.1:p.Gln148Lys
|
|
|
NM_001164711.2:c.406C>A
|
NP_001158183.1:p.Gln136Lys
|
|
|
NM_001164712.2:c.574C>A
|
NP_001158184.1:p.Gln192Lys
|
|
|
NR_028435.2:n.583C>A
|
|
|
