Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551929G>T , CM000664.2:g.85551929G>T	GRCh38
NC_000002.11:g.85779052G>T , CM000664.1:g.85779052G>T	GRCh37
NC_000002.10:g.85632563G>T	NCBI36
NG_011811.2:g.14606C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5970C>A
ENST00000482662.2:n.4377C>A
ENST00000685865.1:n.2329C>A
ENST00000687250.1:n.2029C>A
ENST00000687995.1:n.1844C>A
ENST00000688205.1:c.*1085C>A	ENSP00000509673.1:n.*1085C>A
ENST00000688788.1:n.1731C>A
ENST00000689276.1:c.1423C>A	ENSP00000510012.1:p.Arg475Ser
ENST00000689576.1:c.*111C>A	ENSP00000508712.1:n.*111C>A
ENST00000690108.1:c.*1148C>A	ENSP00000510617.1:n.*1148C>A
ENST00000690468.1:c.*44C>A	ENSP00000509078.1:n.*44C>A
ENST00000690595.1:c.817C>A	ENSP00000508979.1:p.Arg273Ser
ENST00000691348.1:c.*44C>A	ENSP00000509369.1:n.*44C>A
ENST00000691410.1:c.*1069C>A	ENSP00000508479.1:n.*1069C>A
ENST00000693287.1:c.808C>A	ENSP00000510264.1:p.Arg270Ser
ENST00000693681.1:c.805C>A	ENSP00000510789.1:p.Arg269Ser
ENST00000233838.9:c.1492C>A MANE Select	ENSP00000233838.3:p.Arg498Ser
ENST00000233838.8:c.1492C>A	ENSP00000233838.3:p.Arg498Ser
ENST00000430215.7:c.1321C>A	ENSP00000408045.3:p.Arg441Ser
ENST00000465637.5:n.179-3925C>A
NM_000821.5:c.1492C>A	NP_000812.2:p.Arg498Ser
NM_000821.6:c.1492C>A	NP_000812.2:p.Arg498Ser
NM_001142269.2:c.1321C>A	NP_001135741.1:p.Arg441Ser
NM_001142269.3:c.1321C>A	NP_001135741.1:p.Arg441Ser
XM_005264259.3:c.1492C>A	XP_005264316.1:p.Arg498Ser
XM_011532764.1:c.670C>A	XP_011531066.1:p.Arg224Ser
XM_011532765.1:c.670C>A	XP_011531067.1:p.Arg224Ser
XR_939677.1:n.1405C>A
XM_005264259.5:c.1492C>A	XP_005264316.1:p.Arg498Ser
XM_011532764.3:c.670C>A	XP_011531066.1:p.Arg224Ser
XM_011532765.3:c.670C>A	XP_011531067.1:p.Arg224Ser
XM_017003803.2:c.1321C>A	XP_016859292.1:p.Arg441Ser
XR_001738703.2:n.1405C>A
NM_000821.7:c.1492C>A MANE Select	NP_000812.2:p.Arg498Ser
NM_001142269.4:c.1321C>A	NP_001135741.1:p.Arg441Ser

Linked Data

Genomic Alleles

Transcript Alleles