Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151805151C>A , CM000667.2:g.151805151C>A	GRCh38
NC_000005.9:g.151184712C>A , CM000667.1:g.151184712C>A	GRCh37
NC_000005.8:g.151164905C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356245.8:c.*1060C>A MANE Select	ENSP00000348578.3:n.*1060C>A
ENST00000520177.6:c.*1247C>A	ENSP00000427810.2:n.*1247C>A
ENST00000676634.1:n.832C>A
ENST00000676644.1:c.*2438C>A	ENSP00000504249.1:n.*2438C>A
ENST00000676715.1:c.968C>A
ENST00000676734.1:c.562+705C>A	ENSP00000504327.1:n.562+705C>A
ENST00000676878.1:c.562+705C>A	ENSP00000504118.1:n.562+705C>A
ENST00000676899.1:c.856C>A
ENST00000676911.1:n.830C>A
ENST00000676978.1:c.*817C>A	ENSP00000503939.1:n.*817C>A
ENST00000677323.1:c.*1060C>A	ENSP00000502880.1:n.*1060C>A
ENST00000677381.1:c.*2001C>A	ENSP00000504403.1:n.*2001C>A
ENST00000677493.1:c.*1536C>A	ENSP00000504786.1:n.*1536C>A
ENST00000677687.1:c.133-340C>A	ENSP00000504281.1:n.133-340C>A
ENST00000677757.1:n.4311C>A
ENST00000677923.1:c.*1499C>A	ENSP00000504573.1:n.*1499C>A
ENST00000678295.1:c.1065C>A	ENSP00000503775.1:n.1065C>A
ENST00000678646.1:c.*1060C>A	ENSP00000504525.1:n.*1060C>A
ENST00000678657.1:c.989C>A	ENSP00000504393.1:n.989C>A
ENST00000678854.1:c.*512C>A	ENSP00000503080.1:n.*512C>A
ENST00000678904.1:n.2840C>A
ENST00000678910.1:c.*796C>A	ENSP00000503654.1:n.*796C>A
ENST00000678925.1:c.*796C>A	ENSP00000503699.1:n.*796C>A
ENST00000678964.1:c.*1527C>A	ENSP00000503385.1:n.*1527C>A
ENST00000679289.1:c.*2065C>A	ENSP00000504039.1:n.*2065C>A
ENST00000356245.7:c.*1060C>A	ENSP00000348578.3:n.*1060C>A
ENST00000394123.7:c.*1060C>A	ENSP00000377681.3:n.*1060C>A
ENST00000520177.5:c.*2001C>A	ENSP00000427810.1:n.*2001C>A
NM_005754.2:c.*1060C>A	NP_005745.1:n.*1060C>A
NM_198395.1:c.*1060C>A	NP_938405.1:n.*1060C>A
XM_006714749.2:c.*1060C>A	XP_006714812.1:n.*1060C>A
XM_006714750.2:c.*1060C>A	XP_006714813.1:n.*1060C>A
NM_005754.3:c.*1060C>A MANE Select	NP_005745.1:n.*1060C>A
NM_198395.2:c.*1060C>A	NP_938405.1:n.*1060C>A