Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551916A>T , CM000664.2:g.85551916A>T	GRCh38
NC_000002.11:g.85779039A>T , CM000664.1:g.85779039A>T	GRCh37
NC_000002.10:g.85632550A>T	NCBI36
NG_011811.2:g.14619T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5983T>A
ENST00000482662.2:n.4390T>A
ENST00000685865.1:n.2342T>A
ENST00000687250.1:n.2042T>A
ENST00000687995.1:n.1857T>A
ENST00000688205.1:c.*1098T>A	ENSP00000509673.1:n.*1098T>A
ENST00000688788.1:n.1744T>A
ENST00000689276.1:c.1436T>A	ENSP00000510012.1:p.Val479Glu
ENST00000689576.1:c.*124T>A	ENSP00000508712.1:n.*124T>A
ENST00000690108.1:c.*1161T>A	ENSP00000510617.1:n.*1161T>A
ENST00000690468.1:c.*57T>A	ENSP00000509078.1:n.*57T>A
ENST00000690595.1:c.830T>A	ENSP00000508979.1:p.Val277Glu
ENST00000691348.1:c.*57T>A	ENSP00000509369.1:n.*57T>A
ENST00000691410.1:c.*1082T>A	ENSP00000508479.1:n.*1082T>A
ENST00000693287.1:c.821T>A	ENSP00000510264.1:p.Val274Glu
ENST00000693681.1:c.818T>A	ENSP00000510789.1:p.Val273Glu
ENST00000233838.9:c.1505T>A MANE Select	ENSP00000233838.3:p.Val502Glu
ENST00000233838.8:c.1505T>A	ENSP00000233838.3:p.Val502Glu
ENST00000430215.7:c.1334T>A	ENSP00000408045.3:p.Val445Glu
ENST00000465637.5:n.179-3912T>A
NM_000821.5:c.1505T>A	NP_000812.2:p.Val502Glu
NM_000821.6:c.1505T>A	NP_000812.2:p.Val502Glu
NM_001142269.2:c.1334T>A	NP_001135741.1:p.Val445Glu
NM_001142269.3:c.1334T>A	NP_001135741.1:p.Val445Glu
XM_005264259.3:c.1505T>A	XP_005264316.1:p.Val502Glu
XM_011532764.1:c.683T>A	XP_011531066.1:p.Val228Glu
XM_011532765.1:c.683T>A	XP_011531067.1:p.Val228Glu
XR_939677.1:n.1418T>A
XM_005264259.5:c.1505T>A	XP_005264316.1:p.Val502Glu
XM_011532764.3:c.683T>A	XP_011531066.1:p.Val228Glu
XM_011532765.3:c.683T>A	XP_011531067.1:p.Val228Glu
XM_017003803.2:c.1334T>A	XP_016859292.1:p.Val445Glu
XR_001738703.2:n.1418T>A
NM_000821.7:c.1505T>A MANE Select	NP_000812.2:p.Val502Glu
NM_001142269.4:c.1334T>A	NP_001135741.1:p.Val445Glu

Linked Data

Genomic Alleles

Transcript Alleles