ENST00000525083.6:n.1173G>C
|
|
|
ENST00000532101.6:n.792G>C
|
|
|
ENST00000532125.2:c.687G>C
|
ENSP00000434178.2:p.Lys229Asn
|
|
ENST00000533839.6:c.86-409G>C
|
ENSP00000509952.1:n.86-409G>C
|
|
ENST00000534011.6:n.982G>C
|
|
|
ENST00000685484.1:c.690G>C
|
ENSP00000510622.1:p.Lys230Asn
|
|
ENST00000685601.1:c.690G>C
|
ENSP00000510603.1:p.Lys230Asn
|
|
ENST00000685765.1:c.690G>C
|
ENSP00000509991.1:p.Lys230Asn
|
|
ENST00000685844.1:c.*227G>C
|
ENSP00000509820.1:n.*227G>C
|
|
ENST00000685857.1:n.1429G>C
|
|
|
ENST00000686242.1:c.489G>C
|
ENSP00000508950.1:n.489G>C
|
|
ENST00000686888.1:c.*257G>C
|
ENSP00000509619.1:n.*257G>C
|
|
ENST00000687699.1:c.814G>C
|
ENSP00000508878.1:n.814G>C
|
|
ENST00000687786.1:n.2126G>C
|
|
|
ENST00000688100.1:n.1611G>C
|
|
|
ENST00000688588.1:c.690G>C
|
ENSP00000510802.1:p.Lys230Asn
|
|
ENST00000688927.1:n.2901G>C
|
|
|
ENST00000689283.1:c.*353G>C
|
ENSP00000509050.1:n.*353G>C
|
|
ENST00000689477.1:c.*583G>C
|
ENSP00000508945.1:n.*583G>C
|
|
ENST00000689765.1:c.*183G>C
|
ENSP00000509625.1:n.*183G>C
|
|
ENST00000690512.1:c.*541G>C
|
ENSP00000509793.1:n.*541G>C
|
|
ENST00000692039.1:c.*488G>C
|
ENSP00000508821.1:n.*488G>C
|
|
ENST00000692336.1:c.714G>C
|
ENSP00000508540.1:p.Lys238Asn
|
|
ENST00000693133.1:n.1170G>C
|
|
|
ENST00000263578.10:c.690G>C
MANE Select
|
ENSP00000263578.5:p.Lys230Asn
|
|
ENST00000263578.9:c.690G>C
|
ENSP00000263578.5:p.Lys230Asn
|
|
ENST00000525083.5:n.410G>C
|
|
|
ENST00000525770.5:c.*322G>C
|
ENSP00000434739.1:n.*322G>C
|
|
ENST00000527004.5:c.*34G>C
|
ENSP00000436374.1:n.*34G>C
|
|
ENST00000530642.1:n.1472G>C
|
|
|
ENST00000532101.5:n.913G>C
|
|
|
ENST00000532125.1:c.648G>C
|
ENSP00000434178.1:p.Lys216Asn
|
|
ENST00000533395.5:n.423G>C
|
|
|
ENST00000533839.5:n.238-409G>C
|
|
|
ENST00000534011.5:n.742G>C
|
|
|
ENST00000534315.5:n.1002G>C
|
|
|
NM_017547.3:c.690G>C
|
NP_060017.1:p.Lys230Asn
|
|
NR_037647.1:n.636G>C
|
|
|
NR_037648.1:n.876G>C
|
|
|
XM_006718879.2:c.180G>C
|
XP_006718942.1:p.Lys60Asn
|
|
XM_006718880.2:c.57G>C
|
XP_006718943.1:p.Lys19Asn
|
|
XM_006718881.2:c.57G>C
|
XP_006718944.1:p.Lys19Asn
|
|
XM_011542895.1:c.180G>C
|
XP_011541197.1:p.Lys60Asn
|
|
XM_011542896.1:c.180G>C
|
XP_011541198.1:p.Lys60Asn
|
|
XM_006718879.3:c.180G>C
|
XP_006718942.1:p.Lys60Asn
|
|
XM_006718881.3:c.57G>C
|
XP_006718944.1:p.Lys19Asn
|
|
XM_011542895.2:c.180G>C
|
XP_011541197.1:p.Lys60Asn
|
|
XM_011542896.2:c.180G>C
|
XP_011541198.1:p.Lys60Asn
|
|
XM_017018000.2:c.690G>C
|
XP_016873489.1:p.Lys230Asn
|
|
XM_017018001.1:c.180G>C
|
XP_016873490.1:p.Lys60Asn
|
|
XM_017018002.1:c.180G>C
|
XP_016873491.1:p.Lys60Asn
|
|
XM_017018003.2:c.57G>C
|
XP_016873492.1:p.Lys19Asn
|
|
XM_017018004.1:c.57G>C
|
XP_016873493.1:p.Lys19Asn
|
|
XM_017018005.1:c.57G>C
|
XP_016873494.1:p.Lys19Asn
|
|
XM_017018006.2:c.57G>C
|
XP_016873495.1:p.Lys19Asn
|
|
NM_017547.4:c.690G>C
MANE Select
|
NP_060017.1:p.Lys230Asn
|
|
NR_037647.2:n.522G>C
|
|
|
NR_037648.2:n.867G>C
|
|
|