Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026944C>A , CM000665.2:g.49026944C>A	GRCh38
NC_000003.11:g.49064377C>A , CM000665.1:g.49064377C>A	GRCh37
NC_000003.10:g.49039381C>A	NCBI36
NG_012091.1:g.7499G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2659+16G>T	ENSP00000515567.1:n.2659+16G>T
ENST00000703937.1:c.*1720+16G>T	ENSP00000515568.1:n.*1720+16G>T
ENST00000326739.9:c.619+16G>T MANE Select	ENSP00000321584.4:n.619+16G>T
ENST00000429182.6:c.619+16G>T	ENSP00000393525.2:n.619+16G>T
ENST00000442157.2:c.544+16G>T	ENSP00000403502.2:n.544+16G>T
ENST00000462980.2:n.1134+16G>T
ENST00000472328.2:n.685+16G>T
ENST00000491610.2:n.522G>T
ENST00000676607.1:n.915+16G>T
ENST00000676627.1:n.1349+16G>T
ENST00000676708.1:n.1842G>T
ENST00000676864.1:n.1711G>T
ENST00000677010.1:c.655+16G>T	ENSP00000503089.1:n.655+16G>T
ENST00000677108.1:n.2468G>T
ENST00000677168.1:n.1091+16G>T
ENST00000677185.1:n.1125G>T
ENST00000677205.1:n.1346G>T
ENST00000677344.1:n.1836G>T
ENST00000677480.1:c.*296+16G>T	ENSP00000504378.1:n.*296+16G>T
ENST00000677519.1:n.1329+16G>T
ENST00000677593.1:n.1118G>T
ENST00000677740.1:n.2067G>T
ENST00000677991.1:n.1792+16G>T
ENST00000678001.1:n.1112+16G>T
ENST00000678085.1:n.1118G>T
ENST00000678177.1:n.2411G>T
ENST00000678603.1:n.1697+16G>T
ENST00000678724.1:c.544+16G>T	ENSP00000503874.1:n.544+16G>T
ENST00000678920.1:n.777+16G>T
ENST00000679019.1:n.1332G>T
ENST00000679117.1:c.*434+16G>T	ENSP00000503240.1:n.*434+16G>T
ENST00000679339.1:n.1403G>T
ENST00000326739.8:c.619+16G>T	ENSP00000321584.4:n.619+16G>T
ENST00000429182.5:c.413+16G>T
ENST00000442157.1:c.544+16G>T	ENSP00000403502.1:n.544+16G>T
ENST00000462980.1:n.521+16G>T
ENST00000491610.1:n.522G>T
NM_000884.2:c.619+16G>T	NP_000875.2:n.619+16G>T
XM_006713128.2:c.829+16G>T	XP_006713191.1:n.829+16G>T
XM_006713128.3:c.829+16G>T	XP_006713191.1:n.829+16G>T
XM_017006349.1:c.754+16G>T	XP_016861838.1:n.754+16G>T
XM_017006350.1:c.754+16G>T	XP_016861839.1:n.754+16G>T
NM_000884.3:c.619+16G>T MANE Select	NP_000875.2:n.619+16G>T