Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592738T>C , CM000669.2:g.117592738T>C	GRCh38
NC_000007.13:g.117232792T>C , CM000669.1:g.117232792T>C	GRCh37
NC_000007.12:g.117020028T>C	NCBI36
NG_016465.4:g.131955T>C , LRG_663:g.131955T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2490+81T>C	ENSP00000497673.2:n.2490+81T>C
ENST00000647978.2:c.*2204+81T>C	ENSP00000497658.1:n.*2204+81T>C
ENST00000649781.2:c.2307+81T>C	ENSP00000497203.1:n.2307+81T>C
ENST00000685018.2:c.2490+81T>C	ENSP00000510194.2:n.2490+81T>C
ENST00000687278.2:c.2490+81T>C	ENSP00000509593.2:n.2490+81T>C
ENST00000699585.1:c.2490+81T>C	ENSP00000514456.1:n.2490+81T>C
ENST00000699598.1:c.2490+81T>C	ENSP00000514467.1:n.2490+81T>C
ENST00000699599.1:c.2490+81T>C	ENSP00000514468.1:n.2490+81T>C
ENST00000699600.1:c.2490+81T>C	ENSP00000514469.1:n.2490+81T>C
ENST00000699601.1:c.*790+81T>C	ENSP00000514470.1:n.*790+81T>C
ENST00000699602.1:c.2490+81T>C	ENSP00000514471.1:n.2490+81T>C
ENST00000699604.1:c.*2314+81T>C	ENSP00000514472.1:n.*2314+81T>C
ENST00000699605.1:c.2064+81T>C	ENSP00000514473.1:n.2064+81T>C
ENST00000687278.1:c.81+81T>C	ENSP00000509593.1:n.81+81T>C
ENST00000003084.11:c.2490+81T>C MANE Select	ENSP00000003084.6:n.2490+81T>C
ENST00000647720.1:c.140+81T>C
ENST00000647978.1:c.*2204+81T>C	ENSP00000497658.1:n.*2204+81T>C
ENST00000648260.1:c.1402-10088T>C	ENSP00000497957.1:n.1402-10088T>C
ENST00000649406.1:c.2307+81T>C	ENSP00000497965.1:n.2307+81T>C
ENST00000649781.1:c.2307+81T>C	ENSP00000497203.1:n.2307+81T>C
ENST00000003084.10:c.2490+81T>C	ENSP00000003084.6:n.2490+81T>C
ENST00000426809.5:c.2400+81T>C	ENSP00000389119.1:n.2400+81T>C
NM_000492.3:c.2490+81T>C , LRG_663t1:c.2490+81T>C	NP_000483.3:n.2490+81T>C
XM_011515751.1:c.2580+81T>C	XP_011514053.1:n.2580+81T>C
XM_011515752.1:c.2580+81T>C	XP_011514054.1:n.2580+81T>C
XM_011515753.1:c.2247+81T>C	XP_011514055.1:n.2247+81T>C
XM_011515754.1:c.2247+81T>C	XP_011514056.1:n.2247+81T>C
NM_000492.4:c.2490+81T>C MANE Select	NP_000483.3:n.2490+81T>C