|
ENST00000509514.6:c.439A>C
|
ENSP00000426272.2:p.Ile147Leu
|
|
|
ENST00000518349.6:c.113-17705A>C
|
ENSP00000507185.1:n.113-17705A>C
|
|
|
ENST00000682445.1:c.*320A>C
|
ENSP00000508061.1:n.*320A>C
|
|
|
ENST00000682531.1:n.540A>C
|
|
|
|
ENST00000682626.1:c.467A>C
|
ENSP00000507857.1:p.Tyr156Ser
|
|
|
ENST00000682996.1:c.439A>C
|
ENSP00000507792.1:p.Ile147Leu
|
|
|
ENST00000683265.1:n.532A>C
|
|
|
|
ENST00000683371.1:c.*569A>C
|
ENSP00000508376.1:n.*569A>C
|
|
|
ENST00000683390.1:n.2129A>C
|
|
|
|
ENST00000683549.1:n.360A>C
|
|
|
|
ENST00000683936.1:c.*324A>C
|
ENSP00000507721.1:n.*324A>C
|
|
|
ENST00000683974.1:n.521A>C
|
|
|
|
ENST00000683996.1:c.28A>C
|
ENSP00000507060.1:p.Ile10Leu
|
|
|
ENST00000684131.1:n.278A>C
|
|
|
|
ENST00000684160.1:c.*129A>C
|
ENSP00000507821.1:n.*129A>C
|
|
|
ENST00000684214.1:c.439A>C
|
ENSP00000508071.1:p.Ile147Leu
|
|
|
ENST00000414835.7:c.514A>C
|
ENSP00000411960.3:p.Ile172Leu
|
|
|
ENST00000510025.7:c.439A>C
MANE Select
|
ENSP00000424940.3:p.Ile147Leu
|
|
|
ENST00000643250.1:c.*311A>C
|
ENSP00000494737.1:n.*311A>C
|
|
|
ENST00000644146.1:c.*17A>C
|
ENSP00000494808.1:n.*17A>C
|
|
|
ENST00000645099.1:c.-3A>C
|
ENSP00000496091.1:n.-3A>C
|
|
|
ENST00000645702.1:c.28A>C
|
ENSP00000496432.1:p.Ile10Leu
|
|
|
ENST00000645832.1:c.*324A>C
|
ENSP00000494316.1:n.*324A>C
|
|
|
ENST00000646058.1:c.439A>C
|
ENSP00000493579.1:p.Ile147Leu
|
|
|
ENST00000646355.1:c.*445A>C
|
ENSP00000493801.1:n.*445A>C
|
|
|
ENST00000646554.1:c.*417A>C
|
ENSP00000494542.1:n.*417A>C
|
|
|
ENST00000646590.1:c.430A>C
|
ENSP00000494892.1:p.Ile144Leu
|
|
|
ENST00000647335.1:c.*406A>C
|
ENSP00000495180.1:n.*406A>C
|
|
|
ENST00000647342.1:c.*370A>C
|
ENSP00000494992.1:n.*370A>C
|
|
|
ENST00000256216.10:c.439A>C
|
ENSP00000256216.6:p.Ile147Leu
|
|
|
ENST00000414835.6:c.19A>C
|
ENSP00000411960.2:p.Ile7Leu
|
|
|
ENST00000442060.7:c.439A>C
|
ENSP00000390208.3:p.Ile147Leu
|
|
|
ENST00000503168.5:n.428A>C
|
|
|
|
ENST00000504811.5:c.514A>C
|
ENSP00000420914.1:p.Ile172Leu
|
|
|
ENST00000505181.5:n.142A>C
|
|
|
|
ENST00000508788.5:n.341A>C
|
|
|
|
ENST00000509514.5:c.-446A>C
|
ENSP00000426272.1:n.-446A>C
|
|
|
ENST00000510025.5:c.367A>C
|
ENSP00000424940.1:p.Ile123Leu
|
|
|
ENST00000512644.1:n.7A>C
|
|
|
|
ENST00000512841.5:n.487A>C
|
|
|
|
ENST00000513628.5:c.28A>C
|
ENSP00000425993.1:p.Ile10Leu
|
|
|
ENST00000515235.6:n.499A>C
|
|
|
|
ENST00000515320.5:c.385A>C
|
ENSP00000424613.1:p.Ile129Leu
|
|
|
NM_000414.3:c.439A>C
|
NP_000405.1:p.Ile147Leu
|
|
|
NM_001199291.2:c.514A>C
|
NP_001186220.1:p.Ile172Leu
|
|
|
NM_001199292.1:c.385A>C
|
NP_001186221.1:p.Ile129Leu
|
|
|
NM_001292027.1:c.367A>C
|
NP_001278956.1:p.Ile123Leu
|
|
|
NM_001292028.1:c.19A>C
|
NP_001278957.1:p.Ile7Leu
|
|
|
NM_000414.4:c.439A>C
MANE Select
|
NP_000405.1:p.Ile147Leu
|
|
|
NM_001199291.3:c.514A>C
|
NP_001186220.1:p.Ile172Leu
|
|
|
NM_001199292.2:c.385A>C
|
NP_001186221.1:p.Ile129Leu
|
|
|
NM_001292027.2:c.367A>C
|
NP_001278956.1:p.Ile123Leu
|
|
|
NM_001292028.2:c.19A>C
|
NP_001278957.1:p.Ile7Leu
|
|
|
NM_001374497.1:c.430A>C
|
NP_001361426.1:p.Ile144Leu
|
|
|
NM_001374498.1:c.439A>C
|
NP_001361427.1:p.Ile147Leu
|
|
|
NM_001374499.1:c.112A>C
|
NP_001361428.1:p.Ile38Leu
|
|
|
NM_001374500.1:c.-3A>C
|
NP_001361429.1:n.-3A>C
|
|
|
NM_001374501.1:c.28A>C
|
NP_001361430.1:p.Ile10Leu
|
|
|
NM_001374502.1:c.28A>C
|
NP_001361431.1:p.Ile10Leu
|
|
|
NM_001374503.1:c.28A>C
|
NP_001361432.1:p.Ile10Leu
|
|
|
NR_164653.1:n.518A>C
|
|
|
|
NR_164654.1:n.706A>C
|
|
|
