|
ENST00000509514.6:c.435G>C
|
ENSP00000426272.2:p.Arg145Ser
|
|
|
ENST00000518349.6:c.113-17709G>C
|
ENSP00000507185.1:n.113-17709G>C
|
|
|
ENST00000682445.1:c.*316G>C
|
ENSP00000508061.1:n.*316G>C
|
|
|
ENST00000682531.1:n.536G>C
|
|
|
|
ENST00000682626.1:c.463G>C
|
ENSP00000507857.1:p.Asp155His
|
|
|
ENST00000682996.1:c.435G>C
|
ENSP00000507792.1:p.Arg145Ser
|
|
|
ENST00000683265.1:n.528G>C
|
|
|
|
ENST00000683371.1:c.*565G>C
|
ENSP00000508376.1:n.*565G>C
|
|
|
ENST00000683390.1:n.2125G>C
|
|
|
|
ENST00000683549.1:n.356G>C
|
|
|
|
ENST00000683936.1:c.*320G>C
|
ENSP00000507721.1:n.*320G>C
|
|
|
ENST00000683974.1:n.517G>C
|
|
|
|
ENST00000683996.1:c.24G>C
|
ENSP00000507060.1:p.Arg8Ser
|
|
|
ENST00000684131.1:n.274G>C
|
|
|
|
ENST00000684160.1:c.*125G>C
|
ENSP00000507821.1:n.*125G>C
|
|
|
ENST00000684214.1:c.435G>C
|
ENSP00000508071.1:p.Arg145Ser
|
|
|
ENST00000414835.7:c.510G>C
|
ENSP00000411960.3:p.Arg170Ser
|
|
|
ENST00000510025.7:c.435G>C
MANE Select
|
ENSP00000424940.3:p.Arg145Ser
|
|
|
ENST00000643250.1:c.*307G>C
|
ENSP00000494737.1:n.*307G>C
|
|
|
ENST00000644146.1:c.*13G>C
|
ENSP00000494808.1:n.*13G>C
|
|
|
ENST00000645099.1:c.-7G>C
|
ENSP00000496091.1:n.-7G>C
|
|
|
ENST00000645702.1:c.24G>C
|
ENSP00000496432.1:p.Arg8Ser
|
|
|
ENST00000645832.1:c.*320G>C
|
ENSP00000494316.1:n.*320G>C
|
|
|
ENST00000646058.1:c.435G>C
|
ENSP00000493579.1:p.Arg145Ser
|
|
|
ENST00000646355.1:c.*441G>C
|
ENSP00000493801.1:n.*441G>C
|
|
|
ENST00000646554.1:c.*413G>C
|
ENSP00000494542.1:n.*413G>C
|
|
|
ENST00000646590.1:c.426G>C
|
ENSP00000494892.1:p.Lys142Asn
|
|
|
ENST00000647335.1:c.*402G>C
|
ENSP00000495180.1:n.*402G>C
|
|
|
ENST00000647342.1:c.*366G>C
|
ENSP00000494992.1:n.*366G>C
|
|
|
ENST00000256216.10:c.435G>C
|
ENSP00000256216.6:p.Arg145Ser
|
|
|
ENST00000414835.6:c.15G>C
|
ENSP00000411960.2:p.Lys5Asn
|
|
|
ENST00000442060.7:c.435G>C
|
ENSP00000390208.3:p.Arg145Ser
|
|
|
ENST00000503168.5:n.424G>C
|
|
|
|
ENST00000504811.5:c.510G>C
|
ENSP00000420914.1:p.Arg170Ser
|
|
|
ENST00000505181.5:n.138G>C
|
|
|
|
ENST00000508788.5:n.337G>C
|
|
|
|
ENST00000509514.5:c.-450G>C
|
ENSP00000426272.1:n.-450G>C
|
|
|
ENST00000510025.5:c.363G>C
|
ENSP00000424940.1:p.Arg121Ser
|
|
|
ENST00000512644.1:n.3G>C
|
|
|
|
ENST00000512841.5:n.483G>C
|
|
|
|
ENST00000513628.5:c.24G>C
|
ENSP00000425993.1:p.Arg8Ser
|
|
|
ENST00000515235.6:n.495G>C
|
|
|
|
ENST00000515320.5:c.381G>C
|
ENSP00000424613.1:p.Arg127Ser
|
|
|
NM_000414.3:c.435G>C
|
NP_000405.1:p.Arg145Ser
|
|
|
NM_001199291.2:c.510G>C
|
NP_001186220.1:p.Arg170Ser
|
|
|
NM_001199292.1:c.381G>C
|
NP_001186221.1:p.Arg127Ser
|
|
|
NM_001292027.1:c.363G>C
|
NP_001278956.1:p.Arg121Ser
|
|
|
NM_001292028.1:c.15G>C
|
NP_001278957.1:p.Lys5Asn
|
|
|
NM_000414.4:c.435G>C
MANE Select
|
NP_000405.1:p.Arg145Ser
|
|
|
NM_001199291.3:c.510G>C
|
NP_001186220.1:p.Arg170Ser
|
|
|
NM_001199292.2:c.381G>C
|
NP_001186221.1:p.Arg127Ser
|
|
|
NM_001292027.2:c.363G>C
|
NP_001278956.1:p.Arg121Ser
|
|
|
NM_001292028.2:c.15G>C
|
NP_001278957.1:p.Lys5Asn
|
|
|
NM_001374497.1:c.426G>C
|
NP_001361426.1:p.Lys142Asn
|
|
|
NM_001374498.1:c.435G>C
|
NP_001361427.1:p.Arg145Ser
|
|
|
NM_001374499.1:c.108G>C
|
NP_001361428.1:p.Arg36Ser
|
|
|
NM_001374500.1:c.-7G>C
|
NP_001361429.1:n.-7G>C
|
|
|
NM_001374501.1:c.24G>C
|
NP_001361430.1:p.Arg8Ser
|
|
|
NM_001374502.1:c.24G>C
|
NP_001361431.1:p.Arg8Ser
|
|
|
NM_001374503.1:c.24G>C
|
NP_001361432.1:p.Arg8Ser
|
|
|
NR_164653.1:n.514G>C
|
|
|
|
NR_164654.1:n.702G>C
|
|
|
