Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026942C>T , CM000665.2:g.49026942C>T	GRCh38
NC_000003.11:g.49064375C>T , CM000665.1:g.49064375C>T	GRCh37
NC_000003.10:g.49039379C>T	NCBI36
NG_012091.1:g.7501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2659+18G>A	ENSP00000515567.1:n.2659+18G>A
ENST00000703937.1:c.*1720+18G>A	ENSP00000515568.1:n.*1720+18G>A
ENST00000326739.9:c.619+18G>A MANE Select	ENSP00000321584.4:n.619+18G>A
ENST00000429182.6:c.619+18G>A	ENSP00000393525.2:n.619+18G>A
ENST00000442157.2:c.544+18G>A	ENSP00000403502.2:n.544+18G>A
ENST00000462980.2:n.1134+18G>A
ENST00000472328.2:n.685+18G>A
ENST00000491610.2:n.524G>A
ENST00000676607.1:n.915+18G>A
ENST00000676627.1:n.1349+18G>A
ENST00000676708.1:n.1844G>A
ENST00000676864.1:n.1713G>A
ENST00000677010.1:c.655+18G>A	ENSP00000503089.1:n.655+18G>A
ENST00000677108.1:n.2470G>A
ENST00000677168.1:n.1091+18G>A
ENST00000677185.1:n.1127G>A
ENST00000677205.1:n.1348G>A
ENST00000677344.1:n.1838G>A
ENST00000677480.1:c.*296+18G>A	ENSP00000504378.1:n.*296+18G>A
ENST00000677519.1:n.1329+18G>A
ENST00000677593.1:n.1120G>A
ENST00000677740.1:n.2069G>A
ENST00000677991.1:n.1792+18G>A
ENST00000678001.1:n.1112+18G>A
ENST00000678085.1:n.1120G>A
ENST00000678177.1:n.2413G>A
ENST00000678603.1:n.1697+18G>A
ENST00000678724.1:c.544+18G>A	ENSP00000503874.1:n.544+18G>A
ENST00000678920.1:n.777+18G>A
ENST00000679019.1:n.1334G>A
ENST00000679117.1:c.*434+18G>A	ENSP00000503240.1:n.*434+18G>A
ENST00000679339.1:n.1405G>A
ENST00000326739.8:c.619+18G>A	ENSP00000321584.4:n.619+18G>A
ENST00000429182.5:c.413+18G>A
ENST00000442157.1:c.544+18G>A	ENSP00000403502.1:n.544+18G>A
ENST00000462980.1:n.521+18G>A
ENST00000491610.1:n.524G>A
NM_000884.2:c.619+18G>A	NP_000875.2:n.619+18G>A
XM_006713128.2:c.829+18G>A	XP_006713191.1:n.829+18G>A
XM_006713128.3:c.829+18G>A	XP_006713191.1:n.829+18G>A
XM_017006349.1:c.754+18G>A	XP_016861838.1:n.754+18G>A
XM_017006350.1:c.754+18G>A	XP_016861839.1:n.754+18G>A
NM_000884.3:c.619+18G>A MANE Select	NP_000875.2:n.619+18G>A