|
ENST00000696202.1:n.480G>C
(COPA)
|
|
|
|
ENST00000696203.1:n.3292G>C
(COPA)
|
|
|
|
ENST00000696204.1:n.3499G>C
(COPA)
|
|
|
|
ENST00000696206.1:n.579G>C
(COPA)
|
|
|
|
ENST00000696207.1:n.805G>C
(COPA)
|
|
|
|
ENST00000696208.1:n.911G>C
(COPA)
|
|
|
|
ENST00000696209.1:n.1204G>C
(COPA)
|
|
|
|
ENST00000696210.1:n.1204G>C
(COPA)
|
|
|
|
ENST00000696211.1:n.1204G>C
(COPA)
|
|
|
|
ENST00000696212.1:n.3492G>C
(COPA)
|
|
|
|
ENST00000696213.1:n.1935G>C
(COPA)
|
|
|
|
ENST00000696214.1:n.3518G>C
(COPA)
|
|
|
|
ENST00000696215.1:n.911G>C
(COPA)
|
|
|
|
ENST00000241704.8:c.808G>C
(COPA)
MANE Select
|
ENSP00000241704.7:p.Asp270His
|
|
|
ENST00000647683.1:c.808G>C
(COPA)
|
ENSP00000497495.1:p.Asp270His
|
|
|
ENST00000647693.1:n.1892G>C
(COPA)
|
|
|
|
ENST00000647799.1:c.*245G>C
(COPA)
|
ENSP00000497970.1:n.*245G>C
|
|
|
ENST00000647899.1:c.327G>C
(COPA)
|
|
|
|
ENST00000648501.1:c.316-857G>C
(COPA)
|
|
|
|
ENST00000648805.1:c.808G>C
(COPA)
|
ENSP00000497433.1:p.Asp270His
|
|
|
ENST00000649231.1:c.808G>C
(COPA)
|
ENSP00000498061.1:p.Asp270His
|
|
|
ENST00000649676.1:c.355G>C
(COPA)
|
ENSP00000497257.1:p.Asp119His
|
|
|
ENST00000649787.1:c.808G>C
(COPA)
|
ENSP00000497231.1:p.Asp270His
|
|
|
ENST00000649963.1:c.*497G>C
(COPA)
|
ENSP00000498129.1:n.*497G>C
|
|
|
ENST00000650154.1:c.*245G>C
(COPA)
|
ENSP00000497094.1:n.*245G>C
|
|
|
ENST00000241704.7:c.808G>C
(COPA)
|
ENSP00000241704.7:p.Asp270His
|
|
|
ENST00000368069.7:c.808G>C
(COPA)
|
ENSP00000357048.3:p.Asp270His
|
|
|
NM_001098398.1:c.808G>C
(COPA)
|
NP_001091868.1:p.Asp270His
|
|
|
NM_004371.3:c.808G>C
(COPA)
|
NP_004362.2:p.Asp270His
|
|
|
XM_011509584.1:c.-176+27433C>G
(NHLH1)
|
XP_011507886.1:n.-176+27433C>G
|
|
|
NM_001098398.2:c.808G>C
(COPA)
|
NP_001091868.1:p.Asp270His
|
|
|
NM_004371.4:c.808G>C
(COPA)
MANE Select
|
NP_004362.2:p.Asp270His
|
|
