Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136887G= , CM000665.2:g.184136887G=	GRCh38
NC_000003.11:g.183854675G= , CM000665.1:g.183854675G=	GRCh37
NC_000003.10:g.185337369G=	NCBI36
NG_015826.1:g.6866G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*147G=	ENSP00000414775.1:n.*147G=
ENST00000465218.3:n.343+151G=
ENST00000468748.7:n.303+151G=
ENST00000471832.2:c.*465G=	ENSP00000497786.1:n.*465G=
ENST00000484154.2:n.209G=
ENST00000491008.6:n.336G=
ENST00000492226.2:n.317+151G=
ENST00000492773.6:c.52+151G=
ENST00000647636.1:c.320+151G=	ENSP00000497505.1:n.320+151G=
ENST00000647909.1:c.320+151G=	ENSP00000498164.1:n.320+151G=
ENST00000648145.1:c.88+151G=
ENST00000648189.1:c.70+151G=
ENST00000648256.1:c.269+151G=	ENSP00000497356.1:n.269+151G=
ENST00000648314.1:c.320+151G=	ENSP00000496920.1:n.320+151G=
ENST00000648599.1:c.320+151G=	ENSP00000497159.1:n.320+151G=
ENST00000648630.1:c.314+151G=	ENSP00000497887.1:n.314+151G=
ENST00000648682.1:c.320+151G=	ENSP00000498185.1:n.320+151G=
ENST00000648882.1:c.*146+151G=	ENSP00000497603.1:n.*146+151G=
ENST00000648890.1:c.320+151G=	ENSP00000497503.1:n.320+151G=
ENST00000648915.2:c.320+151G= MANE Select	ENSP00000497160.1:n.320+151G=
ENST00000649545.1:c.54+151G=
ENST00000649688.1:c.320+151G=	ENSP00000497097.1:n.320+151G=
ENST00000649814.1:n.369+151G=
ENST00000650244.1:c.465+151G=	ENSP00000497227.1:n.465+151G=
ENST00000650270.1:c.187+151G=
ENST00000273783.7:c.320+151G=	ENSP00000273783.3:n.320+151G=
ENST00000432569.1:c.*147G=	ENSP00000414775.1:n.*147G=
ENST00000432982.5:c.245+212G=
ENST00000444495.1:c.320+151G=	ENSP00000409142.1:n.320+151G=
ENST00000471832.1:n.402G=
ENST00000481054.5:n.321+151G=
ENST00000491144.5:n.668+151G=
ENST00000498831.1:n.176+151G=
NM_003907.2:c.320+151G=	NP_003898.2:n.320+151G=
XR_924208.1:n.1271+151G=
NM_003907.3:c.320+151G= MANE Select	NP_003898.2:n.320+151G=
XM_011513266.3:c.-582+151G=	XP_011511568.1:n.-582+151G=
XR_001740352.2:n.683+151G=
XR_001740353.2:n.683+151G=
XR_924208.2:n.683+151G=