Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551914G>T , CM000664.2:g.85551914G>T	GRCh38
NC_000002.11:g.85779037G>T , CM000664.1:g.85779037G>T	GRCh37
NC_000002.10:g.85632548G>T	NCBI36
NG_011811.2:g.14621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5985C>A
ENST00000482662.2:n.4392C>A
ENST00000685865.1:n.2344C>A
ENST00000687250.1:n.2044C>A
ENST00000687995.1:n.1859C>A
ENST00000688205.1:c.*1100C>A	ENSP00000509673.1:n.*1100C>A
ENST00000688788.1:n.1746C>A
ENST00000689276.1:c.1438C>A	ENSP00000510012.1:p.Gln480Lys
ENST00000689576.1:c.*126C>A	ENSP00000508712.1:n.*126C>A
ENST00000690108.1:c.*1163C>A	ENSP00000510617.1:n.*1163C>A
ENST00000690468.1:c.*59C>A	ENSP00000509078.1:n.*59C>A
ENST00000690595.1:c.832C>A	ENSP00000508979.1:p.Gln278Lys
ENST00000691348.1:c.*59C>A	ENSP00000509369.1:n.*59C>A
ENST00000691410.1:c.*1084C>A	ENSP00000508479.1:n.*1084C>A
ENST00000693287.1:c.823C>A	ENSP00000510264.1:p.Gln275Lys
ENST00000693681.1:c.820C>A	ENSP00000510789.1:p.Gln274Lys
ENST00000233838.9:c.1507C>A MANE Select	ENSP00000233838.3:p.Gln503Lys
ENST00000233838.8:c.1507C>A	ENSP00000233838.3:p.Gln503Lys
ENST00000430215.7:c.1336C>A	ENSP00000408045.3:p.Gln446Lys
ENST00000465637.5:n.179-3910C>A
NM_000821.5:c.1507C>A	NP_000812.2:p.Gln503Lys
NM_000821.6:c.1507C>A	NP_000812.2:p.Gln503Lys
NM_001142269.2:c.1336C>A	NP_001135741.1:p.Gln446Lys
NM_001142269.3:c.1336C>A	NP_001135741.1:p.Gln446Lys
XM_005264259.3:c.1507C>A	XP_005264316.1:p.Gln503Lys
XM_011532764.1:c.685C>A	XP_011531066.1:p.Gln229Lys
XM_011532765.1:c.685C>A	XP_011531067.1:p.Gln229Lys
XR_939677.1:n.1420C>A
XM_005264259.5:c.1507C>A	XP_005264316.1:p.Gln503Lys
XM_011532764.3:c.685C>A	XP_011531066.1:p.Gln229Lys
XM_011532765.3:c.685C>A	XP_011531067.1:p.Gln229Lys
XM_017003803.2:c.1336C>A	XP_016859292.1:p.Gln446Lys
XR_001738703.2:n.1420C>A
NM_000821.7:c.1507C>A MANE Select	NP_000812.2:p.Gln503Lys
NM_001142269.4:c.1336C>A	NP_001135741.1:p.Gln446Lys

Linked Data

Genomic Alleles

Transcript Alleles