Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364018C>A , CM000670.2:g.74364018C>A	GRCh38
NC_000008.10:g.75276253C>A , CM000670.1:g.75276253C>A	GRCh37
NC_000008.9:g.75438808C>A	NCBI36
NG_008787.2:g.47889C>A
NG_008787.3:g.47889C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.728C>A MANE Select	ENSP00000220822.7:p.Ser243Tyr
ENST00000434412.3:c.596C>A	ENSP00000417006.3:p.Ser199Tyr
ENST00000520797.6:n.839C>A
ENST00000521096.6:n.584C>A
ENST00000522568.2:c.*400C>A	ENSP00000430136.1:n.*400C>A
ENST00000523640.2:c.165+12697C>A	ENSP00000502017.1:n.165+12697C>A
ENST00000524195.2:c.280+965C>A	ENSP00000502308.1:n.280+965C>A
ENST00000674612.1:c.401C>A	ENSP00000501864.1:p.Ser134Tyr
ENST00000674710.1:c.694+965C>A	ENSP00000502762.1:n.694+965C>A
ENST00000674754.1:c.*2291C>A	ENSP00000502063.1:n.*2291C>A
ENST00000674756.1:c.*366+965C>A	ENSP00000501860.1:n.*366+965C>A
ENST00000674806.1:c.401C>A	ENSP00000502637.1:p.Ser134Tyr
ENST00000674865.1:c.524C>A	ENSP00000502437.1:p.Ser175Tyr
ENST00000674926.1:c.*1360C>A	ENSP00000501799.1:n.*1360C>A
ENST00000674934.1:c.*416C>A	ENSP00000502187.1:n.*416C>A
ENST00000674944.1:c.*1331C>A	ENSP00000501858.1:n.*1331C>A
ENST00000674946.1:c.694+965C>A	ENSP00000501569.1:n.694+965C>A
ENST00000674973.1:c.422C>A	ENSP00000502447.1:p.Ser141Tyr
ENST00000675007.1:c.*466C>A	ENSP00000502119.1:n.*466C>A
ENST00000675060.1:c.*393C>A	ENSP00000501616.1:n.*393C>A
ENST00000675165.1:c.725C>A	ENSP00000502612.1:p.Ser242Tyr
ENST00000675220.1:c.401C>A	ENSP00000502588.1:p.Ser134Tyr
ENST00000675265.1:c.*478C>A	ENSP00000501848.1:n.*478C>A
ENST00000675336.1:c.*214C>A	ENSP00000502120.1:n.*214C>A
ENST00000675376.1:c.401C>A	ENSP00000502838.1:p.Ser134Tyr
ENST00000675463.1:c.806C>A	ENSP00000502327.1:p.Ser269Tyr
ENST00000675472.1:c.*214C>A	ENSP00000501946.1:n.*214C>A
ENST00000675474.1:n.313C>A
ENST00000675560.1:c.*366+965C>A	ENSP00000502118.1:n.*366+965C>A
ENST00000675625.1:c.*400C>A	ENSP00000501626.1:n.*400C>A
ENST00000675633.1:c.*135C>A	ENSP00000501785.1:n.*135C>A
ENST00000675661.1:c.*488C>A	ENSP00000501958.1:n.*488C>A
ENST00000675706.1:n.2686C>A
ENST00000675821.1:c.401C>A	ENSP00000502198.1:p.Ser134Tyr
ENST00000675832.1:c.*400C>A	ENSP00000502041.1:n.*400C>A
ENST00000675928.1:c.554C>A	ENSP00000501568.1:p.Ser185Tyr
ENST00000675944.1:c.524C>A	ENSP00000502673.1:p.Ser175Tyr
ENST00000675999.1:c.694+965C>A	ENSP00000502572.1:n.694+965C>A
ENST00000676049.1:c.*630C>A	ENSP00000501912.1:n.*630C>A
ENST00000676112.1:c.794C>A	ENSP00000502295.1:p.Ser265Tyr
ENST00000676143.1:c.401C>A	ENSP00000502828.1:p.Ser134Tyr
ENST00000676207.1:c.694+965C>A	ENSP00000502638.1:n.694+965C>A
ENST00000676377.1:c.401C>A	ENSP00000502756.1:p.Ser134Tyr
ENST00000676415.1:c.*34C>A	ENSP00000502665.1:n.*34C>A
ENST00000676443.1:c.680C>A	ENSP00000501769.1:p.Ser227Tyr
ENST00000220822.11:c.728C>A	ENSP00000220822.7:p.Ser243Tyr
ENST00000434412.2:c.524C>A	ENSP00000417006.2:p.Ser175Tyr
ENST00000520797.5:n.493C>A
ENST00000521096.5:n.534C>A
ENST00000522568.1:c.*400C>A	ENSP00000430136.1:n.*400C>A
ENST00000524195.1:n.103+965C>A
ENST00000524366.5:n.572C>A
NM_001040875.2:c.524C>A	NP_001035808.1:p.Ser175Tyr
NM_018972.2:c.728C>A	NP_061845.2:p.Ser243Tyr
NR_046346.1:n.662C>A
XM_011517551.1:c.1022C>A	XP_011515853.1:p.Ser341Tyr
XM_011517552.1:c.401C>A	XP_011515854.1:p.Ser134Tyr
NM_001040875.3:c.524C>A	NP_001035808.1:p.Ser175Tyr
NM_001362929.1:c.401C>A	NP_001349858.1:p.Ser134Tyr
NM_001362930.1:c.554C>A	NP_001349859.1:p.Ser185Tyr
NM_001362931.1:c.694+965C>A	NP_001349860.1:n.694+965C>A
NM_001362932.1:c.401C>A	NP_001349861.1:p.Ser134Tyr
NM_018972.3:c.728C>A	NP_061845.2:p.Ser243Tyr
NM_001362931.2:c.694+965C>A	NP_001349860.1:n.694+965C>A
NM_018972.4:c.728C>A MANE Select	NP_061845.2:p.Ser243Tyr
NM_001040875.4:c.524C>A	NP_001035808.1:p.Ser175Tyr
NM_001362929.2:c.401C>A	NP_001349858.1:p.Ser134Tyr
NM_001362930.2:c.554C>A	NP_001349859.1:p.Ser185Tyr
NM_001362932.2:c.401C>A	NP_001349861.1:p.Ser134Tyr

Linked Data

Genomic Alleles

Transcript Alleles