Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026976C>T , CM000665.2:g.49026976C>T	GRCh38
NC_000003.11:g.49064409C>T , CM000665.1:g.49064409C>T	GRCh37
NC_000003.10:g.49039413C>T	NCBI36
NG_012091.1:g.7467G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2643G>A	ENSP00000515567.1:p.Leu881=
ENST00000703937.1:c.*1704G>A	ENSP00000515568.1:n.*1704G>A
ENST00000326739.9:c.603G>A MANE Select	ENSP00000321584.4:p.Leu201=
ENST00000429182.6:c.603G>A	ENSP00000393525.2:p.Leu201=
ENST00000442157.2:c.528G>A	ENSP00000403502.2:p.Leu176=
ENST00000462980.2:n.1118G>A
ENST00000472328.2:n.669G>A
ENST00000491610.2:n.490G>A
ENST00000676607.1:n.899G>A
ENST00000676627.1:n.1333G>A
ENST00000676708.1:n.1810G>A
ENST00000676864.1:n.1679G>A
ENST00000677010.1:c.639G>A	ENSP00000503089.1:p.Leu213=
ENST00000677108.1:n.2436G>A
ENST00000677168.1:n.1075G>A
ENST00000677185.1:n.1093G>A
ENST00000677205.1:n.1314G>A
ENST00000677344.1:n.1804G>A
ENST00000677480.1:c.*280G>A	ENSP00000504378.1:n.*280G>A
ENST00000677519.1:n.1313G>A
ENST00000677593.1:n.1086G>A
ENST00000677740.1:n.2035G>A
ENST00000677991.1:n.1776G>A
ENST00000678001.1:n.1096G>A
ENST00000678085.1:n.1086G>A
ENST00000678177.1:n.2379G>A
ENST00000678603.1:n.1681G>A
ENST00000678724.1:c.528G>A	ENSP00000503874.1:p.Leu176=
ENST00000678920.1:n.761G>A
ENST00000679019.1:n.1300G>A
ENST00000679117.1:c.*418G>A	ENSP00000503240.1:n.*418G>A
ENST00000679339.1:n.1371G>A
ENST00000326739.8:c.603G>A	ENSP00000321584.4:p.Leu201=
ENST00000429182.5:c.397G>A
ENST00000442157.1:c.528G>A	ENSP00000403502.1:p.Leu176=
ENST00000462980.1:n.505G>A
ENST00000491610.1:n.490G>A
NM_000884.2:c.603G>A	NP_000875.2:p.Leu201=
XM_006713128.2:c.813G>A	XP_006713191.1:p.Leu271=
XM_006713128.3:c.813G>A	XP_006713191.1:p.Leu271=
XM_017006349.1:c.738G>A	XP_016861838.1:p.Leu246=
XM_017006350.1:c.738G>A	XP_016861839.1:p.Leu246=
NM_000884.3:c.603G>A MANE Select	NP_000875.2:p.Leu201=

Linked Data

Genomic Alleles

Transcript Alleles