|
ENST00000473665.2:n.5166G>T
|
|
|
|
ENST00000482662.2:n.3573G>T
|
|
|
|
ENST00000685865.1:n.1525G>T
|
|
|
|
ENST00000687250.1:n.1225G>T
|
|
|
|
ENST00000687995.1:n.1474G>T
|
|
|
|
ENST00000688205.1:c.*715G>T
|
ENSP00000509673.1:n.*715G>T
|
|
|
ENST00000688788.1:n.1361G>T
|
|
|
|
ENST00000689276.1:c.1053G>T
|
ENSP00000510012.1:p.Gln351His
|
|
|
ENST00000689576.1:c.1122G>T
|
ENSP00000508712.1:p.Gln374His
|
|
|
ENST00000690108.1:c.*778G>T
|
ENSP00000510617.1:n.*778G>T
|
|
|
ENST00000690468.1:c.843G>T
|
ENSP00000509078.1:p.Gln281His
|
|
|
ENST00000690595.1:c.447G>T
|
ENSP00000508979.1:p.Gln149His
|
|
|
ENST00000691348.1:c.951G>T
|
ENSP00000509369.1:p.Gln317His
|
|
|
ENST00000691410.1:c.*699G>T
|
ENSP00000508479.1:n.*699G>T
|
|
|
ENST00000693287.1:c.438G>T
|
ENSP00000510264.1:p.Gln146His
|
|
|
ENST00000693681.1:c.435G>T
|
ENSP00000510789.1:p.Gln145His
|
|
|
ENST00000233838.9:c.1122G>T
MANE Select
|
ENSP00000233838.3:p.Gln374His
|
|
|
ENST00000233838.8:c.1122G>T
|
ENSP00000233838.3:p.Gln374His
|
|
|
ENST00000430215.7:c.951G>T
|
ENSP00000408045.3:p.Gln317His
|
|
|
ENST00000465637.5:n.179-5261G>T
|
|
|
|
ENST00000473665.1:n.615G>T
|
|
|
|
ENST00000482662.1:n.539G>T
|
|
|
|
NM_000821.5:c.1122G>T
|
NP_000812.2:p.Gln374His
|
|
|
NM_000821.6:c.1122G>T
|
NP_000812.2:p.Gln374His
|
|
|
NM_001142269.2:c.951G>T
|
NP_001135741.1:p.Gln317His
|
|
|
NM_001142269.3:c.951G>T
|
NP_001135741.1:p.Gln317His
|
|
|
XM_005264259.3:c.1122G>T
|
XP_005264316.1:p.Gln374His
|
|
|
XM_011532764.1:c.300G>T
|
XP_011531066.1:p.Gln100His
|
|
|
XM_011532765.1:c.300G>T
|
XP_011531067.1:p.Gln100His
|
|
|
XR_939677.1:n.1187G>T
|
|
|
|
XM_005264259.5:c.1122G>T
|
XP_005264316.1:p.Gln374His
|
|
|
XM_011532764.3:c.300G>T
|
XP_011531066.1:p.Gln100His
|
|
|
XM_011532765.3:c.300G>T
|
XP_011531067.1:p.Gln100His
|
|
|
XM_017003803.2:c.951G>T
|
XP_016859292.1:p.Gln317His
|
|
|
XR_001738703.2:n.1187G>T
|
|
|
|
NM_000821.7:c.1122G>T
MANE Select
|
NP_000812.2:p.Gln374His
|
|
|
NM_001142269.4:c.951G>T
|
NP_001135741.1:p.Gln317His
|
|
