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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.141647473G= , CM000667.2:g.141647473G=
GRCh38
NC_000005.9:g.141027040G= , CM000667.1:g.141027040G=
GRCh37
NC_000005.8:g.141007224G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000435817.7:c.753C=
MANE Select
ENSP00000399259.2:p.Ser251=
ENST00000435817.6:c.753C=
ENSP00000399259.2:p.Ser251=
ENST00000522126.5:c.525C=
ENSP00000427796.1:p.Ser175=
ENST00000522386.1:n.359C=
ENST00000522763.5:n.57C=
ENST00000522783.5:c.747C=
ENSP00000428677.1:p.Ser249=
ENST00000523856.5:n.11C=
NM_033449.2:c.753C=
NP_258260.1:p.Ser251=
XM_005268524.3:c.747C=
XP_005268581.1:p.Ser249=
XM_006714803.2:c.624C=
XP_006714866.1:p.Ser208=
XM_011537698.1:c.753C=
XP_011536000.1:p.Ser251=
XM_011537699.1:c.753C=
XP_011536001.1:p.Ser251=
XM_011537700.1:c.753C=
XP_011536002.1:p.Ser251=
XM_011537701.1:c.753C=
XP_011536003.1:p.Ser251=
XR_427781.2:n.807C=
XR_944338.1:n.813C=
XR_944339.1:n.813C=
XM_005268524.5:c.747C=
XP_005268581.1:p.Ser249=
XM_006714803.4:c.624C=
XP_006714866.1:p.Ser208=
XM_011537698.3:c.753C=
XP_011536000.1:p.Ser251=
XM_011537700.3:c.753C=
XP_011536002.1:p.Ser251=
XM_011537701.3:c.753C=
XP_011536003.1:p.Ser251=
XM_017010013.2:c.753C=
XP_016865502.1:p.Ser251=
XR_002956197.1:n.749C=
XR_427781.4:n.749C=
XR_944338.3:n.828C=
XR_944339.3:n.828C=
NM_033449.3:c.753C=
MANE Select
NP_258260.1:p.Ser251=