Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364170G>A , CM000670.2:g.74364170G>A	GRCh38
NC_000008.10:g.75276405G>A , CM000670.1:g.75276405G>A	GRCh37
NC_000008.9:g.75438960G>A	NCBI36
NG_008787.2:g.48041G>A
NG_008787.3:g.48041G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220822.12:c.880G>A MANE Select	ENSP00000220822.7:p.Gly294Arg
ENST00000434412.3:c.748G>A	ENSP00000417006.3:p.Gly250Arg
ENST00000520797.6:n.991G>A
ENST00000521096.6:n.736G>A
ENST00000522568.2:c.*545+7G>A	ENSP00000430136.1:n.*545+7G>A
ENST00000523640.2:c.165+12849G>A	ENSP00000502017.1:n.165+12849G>A
ENST00000524195.2:c.280+1117G>A	ENSP00000502308.1:n.280+1117G>A
ENST00000674612.1:c.553G>A	ENSP00000501864.1:p.Gly185Arg
ENST00000674710.1:c.694+1117G>A	ENSP00000502762.1:n.694+1117G>A
ENST00000674754.1:c.*2443G>A	ENSP00000502063.1:n.*2443G>A
ENST00000674756.1:c.*366+1117G>A	ENSP00000501860.1:n.*366+1117G>A
ENST00000674806.1:c.553G>A	ENSP00000502637.1:p.Gly185Arg
ENST00000674865.1:c.676G>A	ENSP00000502437.1:p.Gly226Arg
ENST00000674926.1:c.*1512G>A	ENSP00000501799.1:n.*1512G>A
ENST00000674934.1:c.*568G>A	ENSP00000502187.1:n.*568G>A
ENST00000674944.1:c.*1483G>A	ENSP00000501858.1:n.*1483G>A
ENST00000674946.1:c.694+1117G>A	ENSP00000501569.1:n.694+1117G>A
ENST00000674973.1:c.574G>A	ENSP00000502447.1:p.Gly192Arg
ENST00000675007.1:c.*618G>A	ENSP00000502119.1:n.*618G>A
ENST00000675060.1:c.*545G>A	ENSP00000501616.1:n.*545G>A
ENST00000675165.1:c.877G>A	ENSP00000502612.1:p.Gly293Arg
ENST00000675220.1:c.553G>A	ENSP00000502588.1:p.Gly185Arg
ENST00000675265.1:c.*630G>A	ENSP00000501848.1:n.*630G>A
ENST00000675336.1:c.*366G>A	ENSP00000502120.1:n.*366G>A
ENST00000675376.1:c.553G>A	ENSP00000502838.1:p.Gly185Arg
ENST00000675463.1:c.958G>A	ENSP00000502327.1:p.Gly320Arg
ENST00000675472.1:c.*366G>A	ENSP00000501946.1:n.*366G>A
ENST00000675474.1:n.465G>A
ENST00000675560.1:c.*366+1117G>A	ENSP00000502118.1:n.*366+1117G>A
ENST00000675625.1:c.*552G>A	ENSP00000501626.1:n.*552G>A
ENST00000675633.1:c.*287G>A	ENSP00000501785.1:n.*287G>A
ENST00000675661.1:c.*640G>A	ENSP00000501958.1:n.*640G>A
ENST00000675706.1:n.2838G>A
ENST00000675821.1:c.553G>A	ENSP00000502198.1:p.Gly185Arg
ENST00000675832.1:c.*552G>A	ENSP00000502041.1:n.*552G>A
ENST00000675928.1:c.706G>A	ENSP00000501568.1:p.Gly236Arg
ENST00000675944.1:c.676G>A	ENSP00000502673.1:p.Gly226Arg
ENST00000675999.1:c.694+1117G>A	ENSP00000502572.1:n.694+1117G>A
ENST00000676049.1:c.*782G>A	ENSP00000501912.1:n.*782G>A
ENST00000676112.1:c.946G>A	ENSP00000502295.1:p.Gly316Arg
ENST00000676143.1:c.553G>A	ENSP00000502828.1:p.Gly185Arg
ENST00000676207.1:c.694+1117G>A	ENSP00000502638.1:n.694+1117G>A
ENST00000676377.1:c.553G>A	ENSP00000502756.1:p.Gly185Arg
ENST00000676415.1:c.*186G>A	ENSP00000502665.1:n.*186G>A
ENST00000676443.1:c.832G>A	ENSP00000501769.1:p.Gly278Arg
ENST00000220822.11:c.880G>A	ENSP00000220822.7:p.Gly294Arg
ENST00000434412.2:c.676G>A	ENSP00000417006.2:p.Gly226Arg
ENST00000520797.5:n.645G>A
ENST00000521096.5:n.686G>A
ENST00000522568.1:c.*552G>A	ENSP00000430136.1:n.*552G>A
ENST00000524195.1:n.103+1117G>A
NM_001040875.2:c.676G>A	NP_001035808.1:p.Gly226Arg
NM_018972.2:c.880G>A	NP_061845.2:p.Gly294Arg
NR_046346.1:n.814G>A
XM_011517551.1:c.1174G>A	XP_011515853.1:p.Gly392Arg
XM_011517552.1:c.553G>A	XP_011515854.1:p.Gly185Arg
NM_001040875.3:c.676G>A	NP_001035808.1:p.Gly226Arg
NM_001362929.1:c.553G>A	NP_001349858.1:p.Gly185Arg
NM_001362930.1:c.706G>A	NP_001349859.1:p.Gly236Arg
NM_001362931.1:c.694+1117G>A	NP_001349860.1:n.694+1117G>A
NM_001362932.1:c.553G>A	NP_001349861.1:p.Gly185Arg
NM_018972.3:c.880G>A	NP_061845.2:p.Gly294Arg
NM_001362931.2:c.694+1117G>A	NP_001349860.1:n.694+1117G>A
NM_018972.4:c.880G>A MANE Select	NP_061845.2:p.Gly294Arg
NM_001040875.4:c.676G>A	NP_001035808.1:p.Gly226Arg
NM_001362929.2:c.553G>A	NP_001349858.1:p.Gly185Arg
NM_001362930.2:c.706G>A	NP_001349859.1:p.Gly236Arg
NM_001362932.2:c.553G>A	NP_001349861.1:p.Gly185Arg

Linked Data

Genomic Alleles

Transcript Alleles