|
ENST00000534772.2:c.*1622G>C
|
ENSP00000461912.2:n.*1622G>C
|
|
|
ENST00000703106.1:c.1495G>C
|
ENSP00000515173.1:p.Gly499Arg
|
|
|
ENST00000703107.1:c.*1475G>C
|
ENSP00000515174.1:n.*1475G>C
|
|
|
ENST00000703108.1:c.1482G>C
|
ENSP00000515175.1:p.Ala494=
|
|
|
ENST00000703109.1:c.1453G>C
|
ENSP00000515176.1:p.Gly485Arg
|
|
|
ENST00000703110.1:c.*1111G>C
|
ENSP00000515177.1:n.*1111G>C
|
|
|
ENST00000703111.1:n.1553G>C
|
|
|
|
ENST00000703112.1:n.2319G>C
|
|
|
|
ENST00000703113.1:c.*959G>C
|
ENSP00000515178.1:n.*959G>C
|
|
|
ENST00000703114.1:c.*195G>C
|
ENSP00000515179.1:n.*195G>C
|
|
|
ENST00000703115.1:c.790-6004G>C
|
ENSP00000515180.1:n.790-6004G>C
|
|
|
ENST00000323786.10:c.1546G>C
MANE Select
|
ENSP00000315775.5:p.Gly516Arg
|
|
|
ENST00000564415.6:c.*1326G>C
|
ENSP00000456653.2:n.*1326G>C
|
|
|
ENST00000674443.1:c.1534G>C
|
ENSP00000501405.1:p.Gly512Arg
|
|
|
ENST00000323786.9:c.1546G>C
|
ENSP00000315775.5:p.Gly516Arg
|
|
|
ENST00000393612.8:c.1546G>C
|
ENSP00000377236.5:p.Gly516Arg
|
|
|
ENST00000482252.5:c.1693G>C
|
ENSP00000432802.1:n.1693G>C
|
|
|
ENST00000526700.5:n.785G>C
|
|
|
|
ENST00000530314.5:n.2225G>C
|
|
|
|
ENST00000564315.1:n.6G>C
|
|
|
|
ENST00000564415.5:c.*1326G>C
|
ENSP00000456653.1:n.*1326G>C
|
|
|
NM_001195139.1:c.1546G>C
|
NP_001182068.1:p.Gly516Arg
|
|
|
NM_015386.2:c.1546G>C
|
NP_056201.2:p.Gly516Arg
|
|
|
XM_011522981.1:c.1120G>C
|
XP_011521283.1:p.Gly374Arg
|
|
|
XR_933266.1:n.1492G>C
|
|
|
|
XR_933267.1:n.1492G>C
|
|
|
|
XM_011522981.3:c.1120G>C
|
XP_011521283.1:p.Gly374Arg
|
|
|
XM_024450224.1:c.628G>C
|
XP_024305992.1:p.Gly210Arg
|
|
|
XR_001751889.1:n.1492G>C
|
|
|
|
XR_933266.2:n.1492G>C
|
|
|
|
NM_015386.3:c.1546G>C
MANE Select
|
NP_056201.2:p.Gly516Arg
|
|
|
NM_001195139.2:c.1534G>C
|
NP_001182068.2:p.Gly512Arg
|
|
|
NM_001365426.1:c.1120G>C
|
NP_001352355.1:p.Gly374Arg
|
|
|
NR_158212.1:n.1505G>C
|
|
|
