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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.120670522T>G , CM000665.2:g.120670522T>G
GRCh38
NC_000003.11:g.120389369T>G , CM000665.1:g.120389369T>G
GRCh37
NC_000003.10:g.121872059T>G
NCBI36
NG_011957.1:g.16960A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000283871.10:c.187A>C
MANE Select
ENSP00000283871.5:p.Arg63=
ENST00000283871.9:c.187A>C
ENSP00000283871.5:p.Arg63=
ENST00000466528.5:n.213A>C
ENST00000476082.2:c.64A>C
ENSP00000419560.2:p.Arg22=
ENST00000485313.5:n.295A>C
ENST00000488183.5:n.445A>C
NM_000187.3:c.187A>C
NP_000178.2:p.Arg63=
XM_005247412.1:c.187A>C
XP_005247469.1:p.Arg63=
XM_005247413.1:c.187A>C
XP_005247470.1:p.Arg63=
XM_005247414.3:c.187A>C
XP_005247471.1:p.Arg63=
XM_011512746.1:c.187A>C
XP_011511048.1:p.Arg63=
XM_005247412.2:c.187A>C
XP_005247469.1:p.Arg63=
XM_005247413.2:c.187A>C
XP_005247470.1:p.Arg63=
XM_005247414.5:c.187A>C
XP_005247471.1:p.Arg63=
XM_011512746.2:c.187A>C
XP_011511048.1:p.Arg63=
XM_017006277.2:c.-237A>C
XP_016861766.1:n.-237A>C
NM_000187.4:c.187A>C
MANE Select
NP_000178.2:p.Arg63=