Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026923C>T , CM000665.2:g.49026923C>T	GRCh38
NC_000003.11:g.49064356C>T , CM000665.1:g.49064356C>T	GRCh37
NC_000003.10:g.49039360C>T	NCBI36
NG_012091.1:g.7520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2660-37G>A	ENSP00000515567.1:n.2660-37G>A
ENST00000703937.1:c.*1721-37G>A	ENSP00000515568.1:n.*1721-37G>A
ENST00000326739.9:c.620-37G>A MANE Select	ENSP00000321584.4:n.620-37G>A
ENST00000429182.6:c.620-37G>A	ENSP00000393525.2:n.620-37G>A
ENST00000442157.2:c.545-37G>A	ENSP00000403502.2:n.545-37G>A
ENST00000462980.2:n.1135-37G>A
ENST00000472328.2:n.686-37G>A
ENST00000491610.2:n.543G>A
ENST00000676607.1:n.916-37G>A
ENST00000676627.1:n.1350-37G>A
ENST00000676708.1:n.1863G>A
ENST00000676864.1:n.1732G>A
ENST00000677010.1:c.656-37G>A	ENSP00000503089.1:n.656-37G>A
ENST00000677108.1:n.2489G>A
ENST00000677168.1:n.1092-37G>A
ENST00000677185.1:n.1146G>A
ENST00000677205.1:n.1367G>A
ENST00000677344.1:n.1857G>A
ENST00000677480.1:c.*297-37G>A	ENSP00000504378.1:n.*297-37G>A
ENST00000677519.1:n.1330-37G>A
ENST00000677593.1:n.1139G>A
ENST00000677740.1:n.2088G>A
ENST00000677991.1:n.1793-37G>A
ENST00000678001.1:n.1113-37G>A
ENST00000678085.1:n.1139G>A
ENST00000678177.1:n.2432G>A
ENST00000678603.1:n.1698-37G>A
ENST00000678724.1:c.545-37G>A	ENSP00000503874.1:n.545-37G>A
ENST00000678920.1:n.778-37G>A
ENST00000679019.1:n.1353G>A
ENST00000679117.1:c.*435-37G>A	ENSP00000503240.1:n.*435-37G>A
ENST00000679339.1:n.1424G>A
ENST00000326739.8:c.620-37G>A	ENSP00000321584.4:n.620-37G>A
ENST00000429182.5:c.414-37G>A
ENST00000442157.1:c.545-37G>A	ENSP00000403502.1:n.545-37G>A
ENST00000462980.1:n.522-37G>A
ENST00000491610.1:n.543G>A
NM_000884.2:c.620-37G>A	NP_000875.2:n.620-37G>A
XM_006713128.2:c.830-37G>A	XP_006713191.1:n.830-37G>A
XM_006713128.3:c.830-37G>A	XP_006713191.1:n.830-37G>A
XM_017006349.1:c.755-37G>A	XP_016861838.1:n.755-37G>A
XM_017006350.1:c.755-37G>A	XP_016861839.1:n.755-37G>A
NM_000884.3:c.620-37G>A MANE Select	NP_000875.2:n.620-37G>A