ENST00000249806.11:c.595G>A
MANE Select
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ENSP00000249806.5:p.Ala199Thr
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ENST00000562767.2:c.84-12079G>A
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ENSP00000456336.1:n.84-12079G>A
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ENST00000563917.2:n.437G>A
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ENST00000565471.6:c.136G>A
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ENSP00000457384.1:p.Ala46Thr
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ENST00000635747.1:c.*498G>A
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ENSP00000490627.1:n.*498G>A
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ENST00000636212.1:c.*265G>A
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ENSP00000489851.1:n.*265G>A
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ENST00000636314.1:c.291G>A
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ENSP00000490295.1:p.Leu97=
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ENST00000636674.1:n.1697G>A
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ENST00000636964.1:n.2123G>A
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ENST00000637054.1:c.198+8829G>A
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ENSP00000490807.1:n.198+8829G>A
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ENST00000637223.1:c.*309G>A
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ENSP00000490010.1:n.*309G>A
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ENST00000637329.1:c.564G>A
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ENST00000637450.1:c.*249G>A
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ENSP00000490204.1:n.*249G>A
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ENST00000637494.1:c.307G>A
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ENSP00000490057.1:p.Ala103Thr
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ENST00000637667.1:c.496G>A
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ENSP00000489843.1:p.Ala166Thr
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ENST00000637823.1:c.420G>A
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ENST00000637888.1:c.198+8829G>A
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ENSP00000490546.1:n.198+8829G>A
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ENST00000638076.1:c.*198G>A
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ENSP00000490373.1:n.*198G>A
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ENST00000638144.1:n.238G>A
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ENST00000646164.1:c.38+8829G>A
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ENST00000249806.9:c.595G>A
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ENSP00000249806.5:p.Ala199Thr
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ENST00000538696.5:c.691G>A
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ENSP00000445770.1:p.Ala231Thr
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ENST00000562767.1:c.84-12079G>A
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ENSP00000456336.1:n.84-12079G>A
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ENST00000563917.1:n.495G>A
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ENST00000564752.1:c.621G>A
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ENSP00000457822.1:p.Leu207=
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ENST00000565471.5:c.136G>A
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ENSP00000457384.1:p.Ala46Thr
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ENST00000566347.5:c.406G>A
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ENSP00000457783.1:p.Ala136Thr
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ENST00000567060.5:c.311G>A
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ENSP00000454818.1:p.Cys104Tyr
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NM_017882.2:c.595G>A
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NP_060352.1:p.Ala199Thr
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XR_931861.1:n.817G>A
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NM_017882.3:c.595G>A
MANE Select
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NP_060352.1:p.Ala199Thr
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