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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42787338C= , CM000679.2:g.42787338C=
GRCh38
NC_000017.10:g.40939356C= , CM000679.1:g.40939356C=
GRCh37
NC_000017.9:g.38192882C=
NCBI36
NG_016227.1:g.11708C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000246914.10:c.1537C=
MANE Select
ENSP00000246914.4:p.Arg513=
ENST00000246914.9:c.1537C=
ENSP00000246914.4:p.Arg513=
ENST00000587705.5:n.217C=
ENST00000591448.5:c.*38C=
ENSP00000467088.1:n.*38C=
ENST00000592072.1:n.217C=
NM_032387.4:c.1537C=
NP_115763.2:p.Arg513=
XM_005257595.3:c.1537C=
XP_005257652.1:p.Arg513=
XM_005257596.2:c.1537C=
XP_005257653.1:p.Arg513=
XM_005257597.3:c.1537C=
XP_005257654.1:p.Arg513=
XM_006722020.2:c.1537C=
XP_006722083.1:p.Arg513=
XM_006722021.1:c.529C=
XP_006722084.1:p.Arg177=
XM_006722022.1:c.529C=
XP_006722085.1:p.Arg177=
XM_011525132.1:c.1537C=
XP_011523434.1:p.Arg513=
XM_011525133.1:c.1537C=
XP_011523435.1:p.Arg513=
XM_011525134.1:c.1537C=
XP_011523436.1:p.Arg513=
XM_011525135.1:c.1537C=
XP_011523437.1:p.Arg513=
NM_001321299.1:c.529C=
NP_001308228.1:p.Arg177=
XM_017024962.1:c.1537C=
XP_016880451.1:p.Arg513=
XM_017024966.1:c.529C=
XP_016880455.1:p.Arg177=
NM_032387.5:c.1537C=
MANE Select
NP_115763.2:p.Arg513=
NM_001321299.2:c.529C=
NP_001308228.1:p.Arg177=