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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42787521G= , CM000679.2:g.42787521G=
GRCh38
NC_000017.10:g.40939539G= , CM000679.1:g.40939539G=
GRCh37
NC_000017.9:g.38193065G=
NCBI36
NG_016227.1:g.11891G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000246914.10:c.1720G=
MANE Select
ENSP00000246914.4:p.Ala574=
ENST00000246914.9:c.1720G=
ENSP00000246914.4:p.Ala574=
ENST00000587705.5:n.400G=
ENST00000591448.5:c.*221G=
ENSP00000467088.1:n.*221G=
ENST00000592072.1:n.400G=
NM_032387.4:c.1720G=
NP_115763.2:p.Ala574=
XM_005257595.3:c.1720G=
XP_005257652.1:p.Ala574=
XM_005257596.2:c.1720G=
XP_005257653.1:p.Ala574=
XM_005257597.3:c.1720G=
XP_005257654.1:p.Ala574=
XM_006722020.2:c.1720G=
XP_006722083.1:p.Ala574=
XM_006722021.1:c.712G=
XP_006722084.1:p.Ala238=
XM_006722022.1:c.712G=
XP_006722085.1:p.Ala238=
XM_011525132.1:c.1720G=
XP_011523434.1:p.Ala574=
XM_011525133.1:c.1720G=
XP_011523435.1:p.Ala574=
XM_011525134.1:c.1720G=
XP_011523436.1:p.Ala574=
XM_011525135.1:c.1720G=
XP_011523437.1:p.Ala574=
NM_001321299.1:c.712G=
NP_001308228.1:p.Ala238=
XM_017024962.1:c.1720G=
XP_016880451.1:p.Ala574=
XM_017024966.1:c.712G=
XP_016880455.1:p.Ala238=
NM_032387.5:c.1720G=
MANE Select
NP_115763.2:p.Ala574=
NM_001321299.2:c.712G=
NP_001308228.1:p.Ala238=