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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.26723882C= , CM000672.2:g.26723882C=
GRCh38
NC_000010.10:g.27012811C= , CM000672.1:g.27012811C=
GRCh37
NC_000010.9:g.27052817C=
NCBI36
NG_008972.1:g.31217C=
NG_008972.2:g.31217C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000376215.10:c.686C=
MANE Select
ENSP00000365388.5:p.Ser229=
ENST00000376215.9:c.686C=
ENSP00000365388.5:p.Ser229=
ENST00000473224.1:n.520C=
ENST00000491711.5:c.94C=
NM_014317.3:c.686C=
NP_055132.2:p.Ser229=
XM_005252439.2:c.176C=
XP_005252496.1:p.Ser59=
XM_011519437.1:c.317C=
XP_011517739.1:p.Ser106=
XR_428636.2:n.974C=
XR_930486.1:n.974C=
NM_001321978.1:c.686C=
NP_001308907.1:p.Ser229=
NM_001321979.1:c.176C=
NP_001308908.1:p.Ser59=
NM_014317.4:c.686C=
NP_055132.2:p.Ser229=
XM_011519437.3:c.317C=
XP_011517739.1:p.Ser106=
XM_017016011.2:c.365C=
XP_016871500.1:p.Ser122=
XM_024447922.1:c.686C=
XP_024303690.1:p.Ser229=
XM_024447923.1:c.176C=
XP_024303691.1:p.Ser59=
XR_428636.4:n.974C=
NM_014317.5:c.686C=
MANE Select
NP_055132.2:p.Ser229=
NM_001321978.2:c.686C=
NP_001308907.1:p.Ser229=
NM_001321979.2:c.176C=
NP_001308908.1:p.Ser59=