Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627777T>A , CM000669.2:g.117627777T>A	GRCh38
NC_000007.13:g.117267831T>A , CM000669.1:g.117267831T>A	GRCh37
NC_000007.12:g.117055067T>A	NCBI36
NG_016465.4:g.166994T>A , LRG_663:g.166994T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+207T>A	ENSP00000497673.2:n.3517+207T>A
ENST00000647978.2:c.*3431+7T>A	ENSP00000497658.1:n.*3431+7T>A
ENST00000649781.2:c.3534+7T>A	ENSP00000497203.1:n.3534+7T>A
ENST00000685018.2:c.3717+7T>A	ENSP00000510194.2:n.3717+7T>A
ENST00000687278.2:c.*370+7T>A	ENSP00000509593.2:n.*370+7T>A
ENST00000699585.1:c.3517+207T>A	ENSP00000514456.1:n.3517+207T>A
ENST00000699598.1:c.3717+7T>A	ENSP00000514467.1:n.3717+7T>A
ENST00000699599.1:c.3717+7T>A	ENSP00000514468.1:n.3717+7T>A
ENST00000699600.1:c.*378+7T>A	ENSP00000514469.1:n.*378+7T>A
ENST00000699601.1:c.*2092+7T>A	ENSP00000514470.1:n.*2092+7T>A
ENST00000699602.1:c.3711+7T>A	ENSP00000514471.1:n.3711+7T>A
ENST00000699604.1:c.*3541+7T>A	ENSP00000514472.1:n.*3541+7T>A
ENST00000699605.1:c.3291+7T>A	ENSP00000514473.1:n.3291+7T>A
ENST00000685018.1:c.465+7T>A	ENSP00000510194.1:n.465+7T>A
ENST00000687278.1:c.1504+7T>A	ENSP00000509593.1:n.1504+7T>A
ENST00000689011.1:c.299+7T>A
ENST00000003084.11:c.3717+7T>A MANE Select	ENSP00000003084.6:n.3717+7T>A
ENST00000647720.1:c.1167+207T>A
ENST00000648260.1:c.2506T>A	ENSP00000497957.1:p.Phe836Ile
ENST00000649406.1:c.3541T>A	ENSP00000497965.1:p.Phe1181Ile
ENST00000649781.1:c.3534+7T>A	ENSP00000497203.1:n.3534+7T>A
ENST00000003084.10:c.3717+7T>A	ENSP00000003084.6:n.3717+7T>A
ENST00000426809.5:c.3627+7T>A	ENSP00000389119.1:n.3627+7T>A
ENST00000468795.1:c.549T>A
NM_000492.3:c.3717+7T>A , LRG_663t1:c.3717+7T>A	NP_000483.3:n.3717+7T>A
XM_011515751.1:c.3807+7T>A	XP_011514053.1:n.3807+7T>A
XM_011515752.1:c.3807+7T>A	XP_011514054.1:n.3807+7T>A
XM_011515753.1:c.3474+7T>A	XP_011514055.1:n.3474+7T>A
XM_011515754.1:c.3474+7T>A	XP_011514056.1:n.3474+7T>A
NM_000492.4:c.3717+7T>A MANE Select	NP_000483.3:n.3717+7T>A