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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.120670464G= , CM000665.2:g.120670464G=
GRCh38
NC_000003.11:g.120389311G= , CM000665.1:g.120389311G=
GRCh37
NC_000003.10:g.121872001G=
NCBI36
NG_011957.1:g.17018C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000283871.10:c.245C=
MANE Select
ENSP00000283871.5:p.Thr82=
ENST00000283871.9:c.245C=
ENSP00000283871.5:p.Thr82=
ENST00000466528.5:n.271C=
ENST00000476082.2:c.122C=
ENSP00000419560.2:p.Thr41=
ENST00000485313.5:n.353C=
ENST00000488183.5:n.503C=
NM_000187.3:c.245C=
NP_000178.2:p.Thr82=
XM_005247412.1:c.245C=
XP_005247469.1:p.Thr82=
XM_005247413.1:c.245C=
XP_005247470.1:p.Thr82=
XM_005247414.3:c.245C=
XP_005247471.1:p.Thr82=
XM_011512746.1:c.245C=
XP_011511048.1:p.Thr82=
XM_005247412.2:c.245C=
XP_005247469.1:p.Thr82=
XM_005247413.2:c.245C=
XP_005247470.1:p.Thr82=
XM_005247414.5:c.245C=
XP_005247471.1:p.Thr82=
XM_011512746.2:c.245C=
XP_011511048.1:p.Thr82=
XM_017006277.2:c.-179C=
XP_016861766.1:n.-179C=
NM_000187.4:c.245C=
MANE Select
NP_000178.2:p.Thr82=