|
ENST00000341012.13:c.1913A>T
|
ENSP00000343034.7:p.Asn638Ile
|
|
|
ENST00000404875.7:n.2615A>T
|
|
|
|
ENST00000423007.6:c.2132A>T
|
ENSP00000404119.2:p.Asn711Ile
|
|
|
ENST00000677295.2:c.*2419A>T
|
ENSP00000504346.2:n.*2419A>T
|
|
|
ENST00000678264.2:c.*2258A>T
|
ENSP00000503157.2:n.*2258A>T
|
|
|
ENST00000682070.1:n.2385A>T
|
|
|
|
ENST00000682639.1:c.72A>T
|
|
|
|
ENST00000682813.1:n.2472A>T
|
|
|
|
ENST00000683231.1:c.72A>T
|
|
|
|
ENST00000683392.1:n.4667A>T
|
|
|
|
ENST00000683712.1:n.2480A>T
|
|
|
|
ENST00000683900.1:n.3975A>T
|
|
|
|
ENST00000684062.1:n.2741A>T
|
|
|
|
ENST00000684399.1:c.72A>T
|
|
|
|
ENST00000684579.1:n.3921A>T
|
|
|
|
ENST00000341012.12:c.1913A>T
|
ENSP00000343034.7:p.Asn638Ile
|
|
|
ENST00000372220.5:c.944A>T
|
ENSP00000361294.5:p.Asn315Ile
|
|
|
ENST00000372228.9:c.2141A>T
|
ENSP00000361302.3:p.Asn714Ile
|
|
|
ENST00000402686.8:c.2075A>T
MANE Select
|
ENSP00000385797.4:p.Asn692Ile
|
|
|
ENST00000676640.1:c.2075A>T
|
ENSP00000503281.1:p.Asn692Ile
|
|
|
ENST00000676803.1:c.1136A>T
|
ENSP00000503093.1:p.Asn379Ile
|
|
|
ENST00000676835.1:c.*1290A>T
|
ENSP00000502911.1:n.*1290A>T
|
|
|
ENST00000677029.1:c.1619A>T
|
ENSP00000502936.1:p.Asn540Ile
|
|
|
ENST00000677099.1:c.*1785A>T
|
ENSP00000504553.1:n.*1785A>T
|
|
|
ENST00000677216.1:c.1724A>T
|
ENSP00000503772.1:p.Asn575Ile
|
|
|
ENST00000677221.1:n.1100A>T
|
|
|
|
ENST00000677295.1:c.*1297A>T
|
ENSP00000504346.1:n.*1297A>T
|
|
|
ENST00000677444.1:c.2020A>T
|
|
|
|
ENST00000677586.1:n.1442A>T
|
|
|
|
ENST00000677626.1:c.1724A>T
|
ENSP00000503552.1:p.Asn575Ile
|
|
|
ENST00000677853.1:c.*1083A>T
|
ENSP00000503488.1:n.*1083A>T
|
|
|
ENST00000678264.1:c.*1452A>T
|
ENSP00000503157.1:n.*1452A>T
|
|
|
ENST00000678303.1:c.1985A>T
|
ENSP00000503696.1:p.Asn662Ile
|
|
|
ENST00000678366.1:c.*2324A>T
|
ENSP00000504353.1:n.*2324A>T
|
|
|
ENST00000678546.1:c.*2020A>T
|
ENSP00000503062.1:n.*2020A>T
|
|
|
ENST00000678548.1:c.*2214A>T
|
ENSP00000503934.1:n.*2214A>T
|
|
|
ENST00000678626.1:n.1911A>T
|
|
|
|
ENST00000678739.1:c.*2241A>T
|
ENSP00000503806.1:n.*2241A>T
|
|
|
ENST00000678833.1:c.*1827A>T
|
ENSP00000503893.1:n.*1827A>T
|
|
|
ENST00000679023.1:c.1913A>T
|
ENSP00000503718.1:p.Asn638Ile
|
|
|
ENST00000679076.1:c.1694A>T
|
|
|
|
ENST00000679111.1:c.*831A>T
|
ENSP00000504257.1:n.*831A>T
|
|
|
ENST00000679189.1:c.1724A>T
|
ENSP00000503356.1:p.Asn575Ile
|
|
|
ENST00000341012.11:c.1913A>T
|
ENSP00000343034.7:p.Asn638Ile
|
|
|
ENST00000372220.4:c.938A>T
|
ENSP00000361294.4:p.Asn313Ile
|
|
|
ENST00000372228.7:c.2141A>T
|
ENSP00000361302.3:p.Asn714Ile
|
|
|
ENST00000402686.7:c.2075A>T
|
ENSP00000385797.3:p.Asn692Ile
|
|
|
ENST00000404875.6:c.1724A>T
|
ENSP00000384531.2:p.Asn575Ile
|
|
|
ENST00000423007.5:c.2075A>T
|
ENSP00000404119.1:p.Asn692Ile
|
|
|
ENST00000485278.5:n.2625A>T
|
|
|
|
NM_001077365.1:c.2075A>T
|
NP_001070833.1:p.Asn692Ile
|
|
|
NM_001077366.1:c.1913A>T
|
NP_001070834.1:p.Asn638Ile
|
|
|
NM_001136113.1:c.2075A>T
|
NP_001129585.1:p.Asn692Ile
|
|
|
NM_001136114.1:c.1724A>T
|
NP_001129586.1:p.Asn575Ile
|
|
|
NM_007171.3:c.2141A>T
|
NP_009102.3:p.Asn714Ile
|
|
|
XM_005272156.1:c.2141A>T
|
XP_005272213.1:p.Asn714Ile
|
|
|
XM_005272158.1:c.1979A>T
|
XP_005272215.1:p.Asn660Ile
|
|
|
XM_005272159.1:c.1790A>T
|
XP_005272216.1:p.Asn597Ile
|
|
|
XM_005272162.1:c.944A>T
|
XP_005272219.1:p.Asn315Ile
|
|
|
XM_006716932.1:c.1790A>T
|
XP_006716995.1:p.Asn597Ile
|
|
|
XM_011518140.1:c.1994A>T
|
XP_011516442.1:p.Asn665Ile
|
|
|
XM_011518141.1:c.1928A>T
|
XP_011516443.1:p.Asn643Ile
|
|
|
XM_011518142.1:c.1832A>T
|
XP_011516444.1:p.Asn611Ile
|
|
|
XM_011518143.1:c.1826A>T
|
XP_011516445.1:p.Asn609Ile
|
|
|
XM_011518145.1:c.1685A>T
|
XP_011516447.1:p.Asn562Ile
|
|
|
XM_011518147.1:c.1013A>T
|
XP_011516449.1:p.Asn338Ile
|
|
|
XR_929703.1:n.2317A>T
|
|
|
|
NM_001353193.1:c.2141A>T
|
NP_001340122.1:p.Asn714Ile
|
|
|
NM_001353194.1:c.1913A>T
|
NP_001340123.1:p.Asn638Ile
|
|
|
NM_001353195.1:c.1724A>T
|
NP_001340124.1:p.Asn575Ile
|
|
|
NM_001353196.1:c.1985A>T
|
NP_001340125.1:p.Asn662Ile
|
|
|
NM_001353197.1:c.1979A>T
|
NP_001340126.1:p.Asn660Ile
|
|
|
NM_001353198.1:c.1979A>T
|
NP_001340127.1:p.Asn660Ile
|
|
|
NM_001353199.1:c.1790A>T
|
NP_001340128.1:p.Asn597Ile
|
|
|
NM_001353200.1:c.1619A>T
|
NP_001340129.1:p.Asn540Ile
|
|
|
NR_148391.1:n.2125A>T
|
|
|
|
NR_148392.1:n.2343A>T
|
|
|
|
NR_148393.1:n.2264A>T
|
|
|
|
NR_148394.1:n.2018A>T
|
|
|
|
NR_148395.1:n.2416A>T
|
|
|
|
NR_148396.1:n.2050A>T
|
|
|
|
NR_148397.1:n.2175A>T
|
|
|
|
NR_148398.1:n.2130A>T
|
|
|
|
NR_148399.1:n.2656A>T
|
|
|
|
NR_148400.1:n.2255A>T
|
|
|
|
XM_005272162.3:c.944A>T
|
XP_005272219.1:p.Asn315Ile
|
|
|
XM_006716932.2:c.1790A>T
|
XP_006716995.1:p.Asn597Ile
|
|
|
XM_011518140.2:c.1994A>T
|
XP_011516442.1:p.Asn665Ile
|
|
|
XM_011518141.2:c.1928A>T
|
XP_011516443.1:p.Asn643Ile
|
|
|
XM_011518142.2:c.1832A>T
|
XP_011516444.1:p.Asn611Ile
|
|
|
XM_011518143.2:c.1826A>T
|
XP_011516445.1:p.Asn609Ile
|
|
|
XM_011518145.2:c.1685A>T
|
XP_011516447.1:p.Asn562Ile
|
|
|
XM_017014205.2:c.944A>T
|
XP_016869694.1:p.Asn315Ile
|
|
|
XM_024447380.1:c.944A>T
|
XP_024303148.1:p.Asn315Ile
|
|
|
XM_024447381.1:c.1250A>T
|
XP_024303149.1:p.Asn417Ile
|
|
|
XM_024447382.1:c.944A>T
|
XP_024303150.1:p.Asn315Ile
|
|
|
XR_001746160.2:n.2245A>T
|
|
|
|
XR_001746162.2:n.2450A>T
|
|
|
|
XR_001746164.1:n.2167A>T
|
|
|
|
XR_001746166.2:n.2462A>T
|
|
|
|
NM_001077365.2:c.2075A>T
MANE Select
|
NP_001070833.1:p.Asn692Ile
|
|
|
NM_001077366.2:c.1913A>T
|
NP_001070834.1:p.Asn638Ile
|
|
|
NM_001136113.2:c.2075A>T
|
NP_001129585.1:p.Asn692Ile
|
|
|
NM_001136114.2:c.1724A>T
|
NP_001129586.1:p.Asn575Ile
|
|
|
NM_001353193.2:c.2141A>T
|
NP_001340122.2:p.Asn714Ile
|
|
|
NM_001353194.2:c.1913A>T
|
NP_001340123.1:p.Asn638Ile
|
|
|
NM_001353195.2:c.1724A>T
|
NP_001340124.1:p.Asn575Ile
|
|
|
NM_001353196.2:c.1985A>T
|
NP_001340125.1:p.Asn662Ile
|
|
|
NM_001353197.2:c.1979A>T
|
NP_001340126.2:p.Asn660Ile
|
|
|
NM_001353198.2:c.1979A>T
|
NP_001340127.2:p.Asn660Ile
|
|
|
NM_001353199.2:c.1790A>T
|
NP_001340128.2:p.Asn597Ile
|
|
|
NM_001353200.2:c.1619A>T
|
NP_001340129.1:p.Asn540Ile
|
|
|
NM_001374689.1:c.2063A>T
|
NP_001361618.1:p.Asn688Ile
|
|
|
NM_001374690.1:c.1856A>T
|
NP_001361619.1:p.Asn619Ile
|
|
|
NM_001374691.1:c.1724A>T
|
NP_001361620.1:p.Asn575Ile
|
|
|
NM_001374692.1:c.1724A>T
|
NP_001361621.1:p.Asn575Ile
|
|
|
NM_001374693.1:c.1724A>T
|
NP_001361622.1:p.Asn575Ile
|
|
|
NM_001374695.1:c.1685A>T
|
NP_001361624.1:p.Asn562Ile
|
|
|
NM_007171.4:c.2141A>T
|
NP_009102.4:p.Asn714Ile
|
|
|
NR_148391.2:n.2109A>T
|
|
|
|
NR_148392.2:n.2327A>T
|
|
|
|
NR_148393.2:n.2248A>T
|
|
|
|
NR_148394.2:n.2002A>T
|
|
|
|
NR_148395.2:n.2400A>T
|
|
|
|
NR_148396.2:n.2034A>T
|
|
|
|
NR_148397.2:n.2159A>T
|
|
|
|
NR_148398.2:n.2114A>T
|
|
|
|
NR_148399.2:n.2640A>T
|
|
|
|
NR_148400.2:n.2239A>T
|
|
|
