Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587559A>T , CM000669.2:g.117587559A>T	GRCh38
NC_000007.13:g.117227613A>T , CM000669.1:g.117227613A>T	GRCh37
NC_000007.12:g.117014849A>T	NCBI36
NG_016465.4:g.126776A>T , LRG_663:g.126776A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1585-180A>T	ENSP00000497673.2:n.1585-180A>T
ENST00000647978.2:c.*1299-180A>T	ENSP00000497658.1:n.*1299-180A>T
ENST00000649781.2:c.1402-180A>T	ENSP00000497203.1:n.1402-180A>T
ENST00000685018.2:c.1585-180A>T	ENSP00000510194.2:n.1585-180A>T
ENST00000687278.2:c.1585-180A>T	ENSP00000509593.2:n.1585-180A>T
ENST00000699585.1:c.1585-180A>T	ENSP00000514456.1:n.1585-180A>T
ENST00000699598.1:c.1585-180A>T	ENSP00000514467.1:n.1585-180A>T
ENST00000699599.1:c.1585-180A>T	ENSP00000514468.1:n.1585-180A>T
ENST00000699600.1:c.1585-180A>T	ENSP00000514469.1:n.1585-180A>T
ENST00000699601.1:c.1585-180A>T	ENSP00000514470.1:n.1585-180A>T
ENST00000699602.1:c.1585-180A>T	ENSP00000514471.1:n.1585-180A>T
ENST00000699604.1:c.*1409-180A>T	ENSP00000514472.1:n.*1409-180A>T
ENST00000699605.1:c.1159-180A>T	ENSP00000514473.1:n.1159-180A>T
ENST00000003084.11:c.1585-180A>T MANE Select	ENSP00000003084.6:n.1585-180A>T
ENST00000647978.1:c.*1299-180A>T	ENSP00000497658.1:n.*1299-180A>T
ENST00000648260.1:c.1402-15267A>T	ENSP00000497957.1:n.1402-15267A>T
ENST00000649406.1:c.1402-180A>T	ENSP00000497965.1:n.1402-180A>T
ENST00000649781.1:c.1402-180A>T	ENSP00000497203.1:n.1402-180A>T
ENST00000003084.10:c.1585-180A>T	ENSP00000003084.6:n.1585-180A>T
ENST00000426809.5:c.1495-180A>T	ENSP00000389119.1:n.1495-180A>T
ENST00000472848.1:n.138-180A>T
NM_000492.3:c.1585-180A>T , LRG_663t1:c.1585-180A>T	NP_000483.3:n.1585-180A>T
XM_011515751.1:c.1675-180A>T	XP_011514053.1:n.1675-180A>T
XM_011515752.1:c.1675-180A>T	XP_011514054.1:n.1675-180A>T
XM_011515753.1:c.1342-180A>T	XP_011514055.1:n.1342-180A>T
XM_011515754.1:c.1342-180A>T	XP_011514056.1:n.1342-180A>T
NM_000492.4:c.1585-180A>T MANE Select	NP_000483.3:n.1585-180A>T