Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44401277G>T , CM000682.2:g.44401277G>T	GRCh38
NC_000020.10:g.43029917G>T , CM000682.1:g.43029917G>T	GRCh37
NC_000020.9:g.42463331G>T	NCBI36
NG_009818.1:g.50477G>T , LRG_483:g.50477G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_175914.5:c.50-4781G>T MANE Select	NP_787110.2:n.50-4781G>T
ENST00000316673.9:c.50-4781G>T MANE Select	ENSP00000315180.4:n.50-4781G>T
NM_000457.4:c.-96G>T , LRG_483t2:c.-96G>T	NP_000448.3:n.-96G>T
NM_000457.5:c.-96G>T	NP_000448.3:n.-96G>T
NM_000457.6:c.-96G>T	NP_000448.3:n.-96G>T
NM_001030003.2:c.50-4781G>T	NP_001025174.1:n.50-4781G>T
NM_001030003.3:c.50-4781G>T	NP_001025174.1:n.50-4781G>T
NM_001030004.2:c.50-4781G>T	NP_001025175.1:n.50-4781G>T
NM_001030004.3:c.50-4781G>T	NP_001025175.1:n.50-4781G>T
NM_001258355.1:c.-208G>T	NP_001245284.1:n.-208G>T
NM_001258355.2:c.-208G>T	NP_001245284.1:n.-208G>T
NM_001287182.1:c.41-4781G>T	NP_001274111.1:n.41-4781G>T
NM_001287182.2:c.41-4781G>T	NP_001274111.1:n.41-4781G>T
NM_001287183.1:c.41-4781G>T , LRG_483t3:c.41-4781G>T	NP_001274112.1:n.41-4781G>T
NM_001287183.2:c.41-4781G>T	NP_001274112.1:n.41-4781G>T
NM_001287184.1:c.41-4781G>T	NP_001274113.1:n.41-4781G>T
NM_001287184.2:c.41-4781G>T	NP_001274113.1:n.41-4781G>T
NM_175914.4:c.50-4781G>T , LRG_483t1:c.50-4781G>T	NP_787110.2:n.50-4781G>T
NM_178849.2:c.-96G>T	NP_849180.1:n.-96G>T
NM_178849.3:c.-96G>T	NP_849180.1:n.-96G>T
NM_178850.2:c.-96G>T	NP_849181.1:n.-96G>T
NM_178850.3:c.-96G>T	NP_849181.1:n.-96G>T
ENST00000316099.10:c.-96G>T	ENSP00000312987.3:n.-96G>T
ENST00000316099.9:c.-96G>T	ENSP00000312987.3:n.-96G>T
ENST00000316673.8:c.50-4781G>T	ENSP00000315180.4:n.50-4781G>T
ENST00000372920.1:c.-96G>T	ENSP00000362011.1:n.-96G>T
ENST00000457232.5:c.50-4781G>T	ENSP00000396216.1:n.50-4781G>T
ENST00000609262.5:c.41-4781G>T	ENSP00000476310.1:n.41-4781G>T
ENST00000609795.5:c.50-4781G>T	ENSP00000476609.1:n.50-4781G>T
ENST00000619550.4:c.41-4781G>T	ENSP00000481331.1:n.41-4781G>T
XM_005260407.4:c.-96G>T	XP_005260464.1:n.-96G>T