Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642595T>C , CM000669.2:g.117642595T>C	GRCh38
NC_000007.13:g.117282649T>C , CM000669.1:g.117282649T>C	GRCh37
NC_000007.12:g.117069885T>C	NCBI36
NG_016465.4:g.181812T>C , LRG_663:g.181812T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*82+2T>C	ENSP00000497673.2:n.*82+2T>C
ENST00000647978.2:c.*3587+2T>C	ENSP00000497658.1:n.*3587+2T>C
ENST00000649781.2:c.3690+2T>C	ENSP00000497203.1:n.3690+2T>C
ENST00000685018.2:c.3873+2T>C	ENSP00000510194.2:n.3873+2T>C
ENST00000687278.2:c.*526+2T>C	ENSP00000509593.2:n.*526+2T>C
ENST00000699585.1:c.*82+2T>C	ENSP00000514456.1:n.*82+2T>C
ENST00000699598.1:c.3873+2T>C	ENSP00000514467.1:n.3873+2T>C
ENST00000699599.1:c.3873+2T>C	ENSP00000514468.1:n.3873+2T>C
ENST00000699600.1:c.*534+2T>C	ENSP00000514469.1:n.*534+2T>C
ENST00000699601.1:c.*2248+2T>C	ENSP00000514470.1:n.*2248+2T>C
ENST00000699602.1:c.3867+2T>C	ENSP00000514471.1:n.3867+2T>C
ENST00000699604.1:c.*3697+2T>C	ENSP00000514472.1:n.*3697+2T>C
ENST00000699605.1:c.3447+2T>C	ENSP00000514473.1:n.3447+2T>C
ENST00000685018.1:c.621+2T>C	ENSP00000510194.1:n.621+2T>C
ENST00000687278.1:c.1660+2T>C	ENSP00000509593.1:n.1660+2T>C
ENST00000689011.1:c.455+2T>C
ENST00000003084.11:c.3873+2T>C MANE Select	ENSP00000003084.6:n.3873+2T>C
ENST00000647720.1:c.1323+2T>C
ENST00000649781.1:c.3690+2T>C	ENSP00000497203.1:n.3690+2T>C
ENST00000003084.10:c.3873+2T>C	ENSP00000003084.6:n.3873+2T>C
ENST00000426809.5:c.3783+2T>C	ENSP00000389119.1:n.3783+2T>C
NM_000492.3:c.3873+2T>C , LRG_663t1:c.3873+2T>C	NP_000483.3:n.3873+2T>C
XM_011515751.1:c.3963+2T>C	XP_011514053.1:n.3963+2T>C
XM_011515752.1:c.3963+2T>C	XP_011514054.1:n.3963+2T>C
XM_011515753.1:c.3630+2T>C	XP_011514055.1:n.3630+2T>C
XM_011515754.1:c.3630+2T>C	XP_011514056.1:n.3630+2T>C
NM_000492.4:c.3873+2T>C MANE Select	NP_000483.3:n.3873+2T>C

Linked Data

Genomic Alleles

Transcript Alleles