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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.120650821A>G , CM000665.2:g.120650821A>G
GRCh38
NC_000003.11:g.120369668A>G , CM000665.1:g.120369668A>G
GRCh37
NC_000003.10:g.121852358A>G
NCBI36
NG_011957.1:g.36661T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000283871.10:c.387T>C
MANE Select
ENSP00000283871.5:p.Asn129=
ENST00000283871.9:c.387T>C
ENSP00000283871.5:p.Asn129=
ENST00000476082.2:c.264T>C
ENSP00000419560.2:p.Asn88=
ENST00000485313.5:n.495T>C
ENST00000492108.5:c.18T>C
ENSP00000419838.1:p.Asn6=
NM_000187.3:c.387T>C
NP_000178.2:p.Asn129=
XM_005247412.1:c.387T>C
XP_005247469.1:p.Asn129=
XM_005247413.1:c.387T>C
XP_005247470.1:p.Asn129=
XM_005247414.3:c.387T>C
XP_005247471.1:p.Asn129=
XM_011512746.1:c.387T>C
XP_011511048.1:p.Asn129=
XM_005247412.2:c.387T>C
XP_005247469.1:p.Asn129=
XM_005247413.2:c.387T>C
XP_005247470.1:p.Asn129=
XM_005247414.5:c.387T>C
XP_005247471.1:p.Asn129=
XM_011512746.2:c.387T>C
XP_011511048.1:p.Asn129=
XM_017006277.2:c.-37T>C
XP_016861766.1:n.-37T>C
NM_000187.4:c.387T>C
MANE Select
NP_000178.2:p.Asn129=