Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102039330T= , CM000676.2:g.102039330T=	GRCh38
NC_000014.8:g.102505667T= , CM000676.1:g.102505667T=	GRCh37
NC_000014.7:g.101575420T=	NCBI36
NG_008777.1:g.79803T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684561.1:c.*2919+76T=	ENSP00000506816.1:n.*2919+76T=
ENST00000360184.10:c.11460+76T= MANE Select	ENSP00000348965.4:n.11460+76T=
ENST00000553701.1:n.347-2561A=
ENST00000557242.1:n.329-2561A=
ENST00000557551.1:n.112-2561A=
ENST00000643437.1:n.1414+76T=
ENST00000643829.1:n.1289+76T=
ENST00000644794.1:n.1579+76T=
ENST00000644881.2:c.11460+76T=	ENSP00000495022.2:n.11460+76T=
ENST00000645039.2:c.11460+76T=	ENSP00000495220.2:n.11460+76T=
ENST00000645149.2:c.11313+76T=	ENSP00000495944.2:n.11313+76T=
ENST00000645697.1:n.2123+76T=
ENST00000647204.2:n.701+76T=
ENST00000647366.1:n.5014+76T=
ENST00000679486.1:c.11460+76T=	ENSP00000506688.1:n.11460+76T=
ENST00000679629.1:c.11460+76T=	ENSP00000505589.1:n.11460+76T=
ENST00000679720.1:c.11460+76T=	ENSP00000505938.1:n.11460+76T=
ENST00000679910.1:c.*2542+76T=	ENSP00000506521.1:n.*2542+76T=
ENST00000680120.1:c.11460+76T=	ENSP00000504863.1:n.11460+76T=
ENST00000680200.1:c.*719+76T=	ENSP00000506166.1:n.*719+76T=
ENST00000680313.1:c.11460+76T=	ENSP00000506208.1:n.11460+76T=
ENST00000680423.1:c.*3191+76T=	ENSP00000505483.1:n.*3191+76T=
ENST00000680715.1:c.11460+76T=	ENSP00000505332.1:n.11460+76T=
ENST00000681010.1:c.11460+76T=	ENSP00000505201.1:n.11460+76T=
ENST00000681066.1:c.11460+76T=	ENSP00000506344.1:n.11460+76T=
ENST00000681123.1:c.11460+76T=	ENSP00000506124.1:n.11460+76T=
ENST00000681283.1:c.*172+76T=	ENSP00000505667.1:n.*172+76T=
ENST00000681536.1:c.*4659+76T=	ENSP00000505821.1:n.*4659+76T=
ENST00000681574.1:c.11460+76T=	ENSP00000505523.1:n.11460+76T=
ENST00000681822.1:c.11460+76T=	ENSP00000505744.1:n.11460+76T=
ENST00000360184.8:c.11460+76T=	ENSP00000348965.4:n.11460+76T=
NM_001376.4:c.11460+76T=	NP_001367.2:n.11460+76T=
NM_001376.5:c.11460+76T= MANE Select	NP_001367.2:n.11460+76T=