ENST00000685935.1:c.*540G>C
|
ENSP00000510128.1:n.*540G>C
|
|
ENST00000686680.1:c.591G>C
|
ENSP00000508892.1:p.Val197=
|
|
ENST00000688195.1:c.534G>C
|
ENSP00000510115.1:p.Val178=
|
|
ENST00000688270.1:c.*227G>C
|
ENSP00000509823.1:n.*227G>C
|
|
ENST00000688618.1:c.*733G>C
|
ENSP00000509271.1:n.*733G>C
|
|
ENST00000689040.1:c.*1013G>C
|
ENSP00000508573.1:n.*1013G>C
|
|
ENST00000692097.1:c.*657G>C
|
ENSP00000509668.1:n.*657G>C
|
|
ENST00000692689.1:c.558G>C
|
ENSP00000509732.1:p.Val186=
|
|
ENST00000693457.1:c.*1131G>C
|
ENSP00000508414.1:n.*1131G>C
|
|
ENST00000693682.1:c.*550G>C
|
ENSP00000508670.1:n.*550G>C
|
|
ENST00000258173.11:c.906G>C
MANE Select
|
ENSP00000258173.5:p.Val302=
|
|
ENST00000258173.10:c.906G>C
|
ENSP00000258173.5:p.Val302=
|
|
ENST00000460606.1:c.159+2563G>C
|
|
|
ENST00000562410.5:c.*708G>C
|
ENSP00000454582.1:n.*708G>C
|
|
ENST00000564318.1:n.831G>C
|
|
|
ENST00000565067.5:c.762G>C
|
ENSP00000457254.1:p.Val254=
|
|
ENST00000568377.5:c.993G>C
|
ENSP00000476267.1:p.Val331=
|
|
ENST00000570006.5:c.*286G>C
|
ENSP00000455520.1:n.*286G>C
|
|
NM_001077416.2:c.1065G>C
|
NP_001070884.2:p.Val355=
|
|
NM_001077418.2:c.906G>C
|
NP_001070886.1:p.Val302=
|
|
NR_074083.1:n.1106G>C
|
|
|
NM_001077418.3:c.906G>C
MANE Select
|
NP_001070886.1:p.Val302=
|
|
NR_074083.2:n.1072G>C
|
|
|