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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.168944664T>G , CM000664.2:g.168944664T>G
GRCh38
NC_000002.11:g.169801174T>G , CM000664.1:g.169801174T>G
GRCh37
NC_000002.10:g.169509420T>G
NCBI36
NG_007374.1:g.91660A>C
NG_007374.2:g.91733A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000649448.1:c.868A>C
ENSP00000497165.1:p.Arg290=
ENST00000650372.1:c.2551A>C
MANE Select
ENSP00000497931.1:p.Arg851=
ENST00000263817.6:c.2551A>C
ENSP00000263817.6:p.Arg851=
ENST00000439188.1:c.1240A>C
ENSP00000416058.1:n.1240A>C
NM_003742.2:c.2551A>C
NP_003733.2:p.Arg851=
XM_006712817.2:c.2593A>C
XP_006712880.1:p.Arg865=
XM_011512077.1:c.2653A>C
XP_011510379.1:p.Arg885=
XM_011512078.1:c.2653A>C
XP_011510380.1:p.Arg885=
XM_011512079.1:c.2653A>C
XP_011510381.1:p.Arg885=
XM_011512080.1:c.2653A>C
XP_011510382.1:p.Arg885=
XM_011512081.1:c.877A>C
XP_011510383.1:p.Arg293=
NM_003742.4:c.2551A>C
MANE Select
NP_003733.2:p.Arg851=
XM_006712817.3:c.2593A>C
XP_006712880.1:p.Arg865=
XM_011512077.2:c.2653A>C
XP_011510379.1:p.Arg885=
XM_011512078.2:c.2653A>C
XP_011510380.1:p.Arg885=
XM_011512080.2:c.2653A>C
XP_011510382.1:p.Arg885=
XM_011512081.2:c.877A>C
XP_011510383.1:p.Arg293=
XM_017005165.1:c.2653A>C
XP_016860654.1:p.Arg885=
XM_017005166.1:c.1882A>C
XP_016860655.1:p.Arg628=
XM_017005167.1:c.1336A>C
XP_016860656.1:p.Arg446=