Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958112G>T , CM000672.2:g.87958112G>T	GRCh38
NC_000010.10:g.89717869G>T , CM000672.1:g.89717869G>T	GRCh37
NC_000010.9:g.89707849G>T	NCBI36
NG_007466.2:g.99674G>T , LRG_311:g.99674G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.801+93G>T	ENSP00000514759.2:n.801+93G>T
ENST00000710265.1:c.801+93G>T	ENSP00000518161.1:n.801+93G>T
ENST00000472832.3:c.801+93G>T	ENSP00000483066.2:n.801+93G>T
ENST00000688158.2:n.1536+93G>T
ENST00000688922.2:c.*631+93G>T	ENSP00000508742.2:n.*631+93G>T
ENST00000700021.1:c.756+93G>T	ENSP00000514757.1:n.756+93G>T
ENST00000700022.1:c.*140+93G>T	ENSP00000514758.1:n.*140+93G>T
ENST00000700023.1:n.1959+93G>T
ENST00000700024.1:n.2193+93G>T
ENST00000700025.1:n.1570+93G>T
ENST00000700026.1:n.438+93G>T
ENST00000700029.1:c.635+93G>T
ENST00000706954.1:c.801+93G>T	ENSP00000516674.1:n.801+93G>T
ENST00000706955.1:c.*836+93G>T	ENSP00000516675.1:n.*836+93G>T
ENST00000686459.1:c.*387+93G>T	ENSP00000508909.1:n.*387+93G>T
ENST00000688158.1:c.*912+93G>T	ENSP00000509254.1:n.*912+93G>T
ENST00000688308.1:c.801+93G>T	ENSP00000508752.1:n.801+93G>T
ENST00000688922.1:c.722+93G>T
ENST00000693560.1:c.1320+93G>T	ENSP00000509861.1:n.1320+93G>T
ENST00000371953.8:c.801+93G>T MANE Select	ENSP00000361021.3:n.801+93G>T
ENST00000371953.7:c.801+93G>T	ENSP00000361021.3:n.801+93G>T
ENST00000472832.2:c.228+93G>T	ENSP00000483066.1:n.228+93G>T
NM_000314.5:c.801+93G>T	NP_000305.3:n.801+93G>T
NM_000314.6:c.801+93G>T	NP_000305.3:n.801+93G>T
NM_001304717.2:c.1320+93G>T	NP_001291646.2:n.1320+93G>T
NM_001304718.1:c.210+93G>T	NP_001291647.1:n.210+93G>T
XM_006717926.2:c.756+93G>T	XP_006717989.1:n.756+93G>T
XM_011539981.1:c.801+93G>T	XP_011538283.1:n.801+93G>T
XM_011539982.1:c.705+93G>T	XP_011538284.1:n.705+93G>T
XR_945791.1:n.1371+93G>T
NM_000314.7:c.801+93G>T	NP_000305.3:n.801+93G>T
NM_001304717.5:c.1320+93G>T	NP_001291646.4:n.1320+93G>T
NM_001304718.2:c.210+93G>T	NP_001291647.1:n.210+93G>T
NM_000314.8:c.801+93G>T MANE Select	NP_000305.3:n.801+93G>T