Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44418519C>T , CM000682.2:g.44418519C>T	GRCh38
NC_000020.10:g.43047159C>T , CM000682.1:g.43047159C>T	GRCh37
NC_000020.9:g.42480573C>T	NCBI36
NG_009818.1:g.67719C>T , LRG_483:g.67719C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_175914.5:c.670+7C>T MANE Select	NP_787110.2:n.670+7C>T
ENST00000316673.9:c.670+7C>T MANE Select	ENSP00000315180.4:n.670+7C>T
NM_000457.4:c.736+7C>T , LRG_483t2:c.736+7C>T	NP_000448.3:n.736+7C>T
NM_000457.5:c.736+7C>T	NP_000448.3:n.736+7C>T
NM_000457.6:c.736+7C>T	NP_000448.3:n.736+7C>T
NM_001030003.2:c.670+7C>T	NP_001025174.1:n.670+7C>T
NM_001030003.3:c.670+7C>T	NP_001025174.1:n.670+7C>T
NM_001030004.2:c.670+7C>T	NP_001025175.1:n.670+7C>T
NM_001030004.3:c.670+7C>T	NP_001025175.1:n.670+7C>T
NM_001258355.1:c.715+7C>T	NP_001245284.1:n.715+7C>T
NM_001258355.2:c.715+7C>T	NP_001245284.1:n.715+7C>T
NM_001287182.1:c.661+7C>T	NP_001274111.1:n.661+7C>T
NM_001287182.2:c.661+7C>T	NP_001274111.1:n.661+7C>T
NM_001287183.1:c.661+7C>T , LRG_483t3:c.661+7C>T	NP_001274112.1:n.661+7C>T
NM_001287183.2:c.661+7C>T	NP_001274112.1:n.661+7C>T
NM_001287184.1:c.661+7C>T	NP_001274113.1:n.661+7C>T
NM_001287184.2:c.661+7C>T	NP_001274113.1:n.661+7C>T
NM_175914.4:c.670+7C>T , LRG_483t1:c.670+7C>T	NP_787110.2:n.670+7C>T
NM_178849.2:c.736+7C>T	NP_849180.1:n.736+7C>T
NM_178849.3:c.736+7C>T	NP_849180.1:n.736+7C>T
NM_178850.2:c.736+7C>T	NP_849181.1:n.736+7C>T
NM_178850.3:c.736+7C>T	NP_849181.1:n.736+7C>T
ENST00000316099.10:c.736+7C>T	ENSP00000312987.3:n.736+7C>T
ENST00000316099.8:c.736+7C>T	ENSP00000312987.3:n.736+7C>T
ENST00000316099.9:c.736+7C>T	ENSP00000312987.3:n.736+7C>T
ENST00000316673.8:c.670+7C>T	ENSP00000315180.4:n.670+7C>T
ENST00000372920.1:c.*503+7C>T	ENSP00000362011.1:n.*503+7C>T
ENST00000415691.2:c.736+7C>T	ENSP00000412111.1:n.736+7C>T
ENST00000443598.6:c.736+7C>T	ENSP00000410911.2:n.736+7C>T
ENST00000457232.5:c.670+7C>T	ENSP00000396216.1:n.670+7C>T
ENST00000609795.5:c.670+7C>T	ENSP00000476609.1:n.670+7C>T
ENST00000619550.4:c.661+7C>T	ENSP00000481331.1:n.661+7C>T
ENST00000619550.5:c.710+7C>T
ENST00000683148.1:n.712+7C>T
ENST00000683657.1:n.1860+7C>T
XM_005260407.2:c.853+7C>T	XP_005260464.1:n.853+7C>T
XM_005260407.4:c.853+7C>T	XP_005260464.1:n.853+7C>T
XM_011528797.1:c.784+7C>T	XP_011527099.1:n.784+7C>T
XM_011528798.1:c.784+7C>T	XP_011527100.1:n.784+7C>T