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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.3810711T>C , CM000678.2:g.3810711T>C
GRCh38
NC_000016.9:g.3860712T>C , CM000678.1:g.3860712T>C
GRCh37
NC_000016.8:g.3800713T>C
NCBI36
NG_009873.1:g.74410A>G
NG_009873.2:g.75003A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262367.10:c.867A>G
MANE Select
ENSP00000262367.5:p.Gly289=
ENST00000262367.9:c.867A>G
ENSP00000262367.5:p.Gly289=
ENST00000382070.7:c.867A>G
ENSP00000371502.3:p.Gly289=
NM_001079846.1:c.867A>G
NP_001073315.1:p.Gly289=
NM_004380.2:c.867A>G
NP_004371.2:p.Gly289=
XM_005255124.3:c.867A>G
XP_005255181.1:p.Gly289=
XM_005255125.3:c.867A>G
XP_005255182.1:p.Gly289=
XM_006720848.2:c.867A>G
XP_006720911.1:p.Gly289=
XM_011522380.1:c.813A>G
XP_011520682.1:p.Gly271=
XM_011522381.1:c.114A>G
XP_011520683.1:p.Gly38=
XM_011522382.1:c.867A>G
XP_011520684.1:p.Gly289=
XM_005255124.4:c.867A>G
XP_005255181.1:p.Gly289=
XM_005255125.4:c.867A>G
XP_005255182.1:p.Gly289=
XM_006720848.3:c.867A>G
XP_006720911.1:p.Gly289=
XM_011522381.2:c.114A>G
XP_011520683.1:p.Gly38=
XM_011522382.3:c.867A>G
XP_011520684.1:p.Gly289=
XM_017022944.1:c.867A>G
XP_016878433.1:p.Gly289=
NM_004380.3:c.867A>G
MANE Select
NP_004371.2:p.Gly289=