Allele Registry

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Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153134G= , CM000669.2:g.44153134G=	GRCh38
NC_000007.13:g.44192733G= , CM000669.1:g.44192733G=	GRCh37
NC_000007.12:g.44159258G=	NCBI36
NG_008847.1:g.41290C=
NG_008847.2:g.50037C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*206+167C=	ENSP00000379142.4:n.*206+167C=
ENST00000616242.5:c.208+167C=	ENSP00000482149.2:n.208+167C=
ENST00000682635.1:n.694+167C=
ENST00000345378.7:c.211+167C=	ENSP00000223366.2:n.211+167C=
ENST00000403799.8:c.208+167C= MANE Select	ENSP00000384247.3:n.208+167C=
ENST00000671824.1:c.208+167C=	ENSP00000500264.1:n.208+167C=
ENST00000673284.1:c.208+167C=	ENSP00000499852.1:n.208+167C=
ENST00000345378.6:c.211+167C=	ENSP00000223366.2:n.211+167C=
ENST00000395796.7:c.205+167C=	ENSP00000379142.3:n.205+167C=
ENST00000403799.7:c.208+167C=	ENSP00000384247.3:n.208+167C=
ENST00000437084.1:c.208+167C=	ENSP00000402840.1:n.208+167C=
ENST00000616242.4:c.205+167C=	ENSP00000482149.1:n.205+167C=
NM_000162.3:c.208+167C=	NP_000153.1:n.208+167C=
NM_033507.1:c.211+167C=	NP_277042.1:n.211+167C=
NM_033508.1:c.205+167C=	NP_277043.1:n.205+167C=
NM_000162.4:c.208+167C=	NP_000153.1:n.208+167C=
NM_001354800.1:c.208+167C=	NP_001341729.1:n.208+167C=
NM_033507.2:c.211+167C=	NP_277042.1:n.211+167C=
NM_033508.2:c.205+167C=	NP_277043.1:n.205+167C=
NM_000162.5:c.208+167C= MANE Select	NP_000153.1:n.208+167C=
NM_033507.3:c.211+167C=	NP_277042.1:n.211+167C=
NM_033508.3:c.205+167C=	NP_277043.1:n.205+167C=