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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.84149026A>G , CM000678.2:g.84149026A>G
GRCh38
NC_000016.9:g.84182631A>G , CM000678.1:g.84182631A>G
GRCh37
NC_000016.8:g.82740132A>G
NCBI36
NG_021174.1:g.8767A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378553.10:c.144A>G
MANE Select
ENSP00000367815.5:p.Glu48=
ENST00000378553.9:c.144A>G
ENSP00000367815.5:p.Glu48=
ENST00000563093.5:c.144A>G
ENSP00000457373.1:p.Glu48=
ENST00000567918.5:c.144A>G
ENSP00000455154.1:p.Glu48=
ENST00000570298.5:n.298A>G
NM_178452.4:c.144A>G
NP_848547.4:p.Glu48=
XM_006721129.1:c.144A>G
XP_006721192.1:p.Glu48=
XM_011522850.1:c.144A>G
XP_011521152.1:p.Glu48=
XM_011522851.1:c.144A>G
XP_011521153.1:p.Glu48=
XM_011522852.1:c.144A>G
XP_011521154.1:p.Glu48=
XM_011522853.1:c.144A>G
XP_011521155.1:p.Glu48=
XM_011522854.1:c.144A>G
XP_011521156.1:p.Glu48=
XM_011522855.1:c.144A>G
XP_011521157.1:p.Glu48=
XM_011522856.1:c.-118A>G
XP_011521158.1:n.-118A>G
XM_011522857.1:c.144A>G
XP_011521159.1:p.Glu48=
XM_011522858.1:c.144A>G
XP_011521160.1:p.Glu48=
NM_178452.5:c.144A>G
NP_848547.4:p.Glu48=
XM_006721129.3:c.144A>G
XP_006721192.1:p.Glu48=
XM_011522853.3:c.144A>G
XP_011521155.1:p.Glu48=
XM_011522854.3:c.144A>G
XP_011521156.1:p.Glu48=
XM_011522855.3:c.144A>G
XP_011521157.1:p.Glu48=
XM_011522857.3:c.144A>G
XP_011521159.1:p.Glu48=
XM_011522858.3:c.144A>G
XP_011521160.1:p.Glu48=
XM_017022918.2:c.144A>G
XP_016878407.1:p.Glu48=
XM_017022919.1:c.-118A>G
XP_016878408.1:n.-118A>G
XR_001751829.2:n.318A>G
XR_001751830.2:n.318A>G
XR_001751831.2:n.318A>G
XR_001751832.1:n.627A>G
NM_178452.6:c.144A>G
MANE Select
NP_848547.4:p.Glu48=