|
ENST00000435180.6:c.829G>C
|
ENSP00000391168.2:n.829G>C
|
|
|
ENST00000607071.6:c.*1337G>C
|
ENSP00000475855.1:n.*1337G>C
|
|
|
ENST00000642244.1:c.1527G>C
|
ENSP00000493554.1:p.Leu509Phe
|
|
|
ENST00000642903.1:c.1617G>C
|
ENSP00000493559.1:p.Leu539Phe
|
|
|
ENST00000644972.1:c.1617G>C
|
ENSP00000496451.1:p.Leu539Phe
|
|
|
ENST00000645077.1:c.*1238G>C
|
ENSP00000496113.1:n.*1238G>C
|
|
|
ENST00000645172.1:c.*1319G>C
|
ENSP00000495367.1:n.*1319G>C
|
|
|
ENST00000646190.1:n.2948G>C
|
|
|
|
ENST00000646208.1:c.1353G>C
|
ENSP00000493723.1:p.Leu451Phe
|
|
|
ENST00000646410.1:c.1488G>C
|
ENSP00000494205.1:p.Leu496Phe
|
|
|
ENST00000646562.1:c.*1451G>C
|
ENSP00000496087.1:n.*1451G>C
|
|
|
ENST00000647468.2:c.1617G>C
MANE Select
|
ENSP00000496731.1:p.Leu539Phe
|
|
|
ENST00000648111.1:c.*1305G>C
|
ENSP00000497275.1:n.*1305G>C
|
|
|
ENST00000367101.5:c.*65G>C
|
ENSP00000356068.1:n.*65G>C
|
|
|
ENST00000367104.7:c.1617G>C
|
ENSP00000356071.3:p.Leu539Phe
|
|
|
ENST00000435180.5:c.342G>C
|
ENSP00000391168.1:p.Leu114Phe
|
|
|
ENST00000606965.5:c.*178G>C
|
ENSP00000475808.1:n.*178G>C
|
|
|
ENST00000607071.5:c.*1551G>C
|
ENSP00000475855.1:n.*1551G>C
|
|
|
ENST00000607742.5:c.*2895G>C
|
ENSP00000475523.1:n.*2895G>C
|
|
|
NM_032861.3:c.1617G>C
|
NP_116250.3:p.Leu539Phe
|
|
|
NR_073096.1:n.1550G>C
|
|
|
|
XM_006715586.1:c.1407G>C
|
XP_006715649.1:p.Leu469Phe
|
|
|
XM_011536196.1:c.1596G>C
|
XP_011534498.1:p.Leu532Phe
|
|
|
XM_011536197.1:c.1503G>C
|
XP_011534499.1:p.Leu501Phe
|
|
|
XM_011536198.1:c.1407G>C
|
XP_011534500.1:p.Leu469Phe
|
|
|
XM_006715586.3:c.1407G>C
|
XP_006715649.1:p.Leu469Phe
|
|
|
XM_011536196.3:c.1596G>C
|
XP_011534498.1:p.Leu532Phe
|
|
|
XM_011536198.3:c.1407G>C
|
XP_011534500.1:p.Leu469Phe
|
|
|
XM_024446573.1:c.1617G>C
|
XP_024302341.1:p.Leu539Phe
|
|
|
XR_001743697.2:n.1648G>C
|
|
|
|
XR_942606.2:n.1699G>C
|
|
|
|
NM_032861.4:c.1617G>C
MANE Select
|
NP_116250.3:p.Leu539Phe
|
|
|
NR_073096.2:n.1532G>C
|
|
|
