Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026903A>C , CM000665.2:g.49026903A>C	GRCh38
NC_000003.11:g.49064336A>C , CM000665.1:g.49064336A>C	GRCh37
NC_000003.10:g.49039340A>C	NCBI36
NG_012091.1:g.7540T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2660-17T>G	ENSP00000515567.1:n.2660-17T>G
ENST00000703937.1:c.*1721-17T>G	ENSP00000515568.1:n.*1721-17T>G
ENST00000326739.9:c.620-17T>G MANE Select	ENSP00000321584.4:n.620-17T>G
ENST00000429182.6:c.620-17T>G	ENSP00000393525.2:n.620-17T>G
ENST00000442157.2:c.545-17T>G	ENSP00000403502.2:n.545-17T>G
ENST00000462980.2:n.1135-17T>G
ENST00000472328.2:n.686-17T>G
ENST00000491610.2:n.563T>G
ENST00000676607.1:n.916-17T>G
ENST00000676627.1:n.1350-17T>G
ENST00000676708.1:n.1883T>G
ENST00000676864.1:n.1752T>G
ENST00000677010.1:c.656-17T>G	ENSP00000503089.1:n.656-17T>G
ENST00000677108.1:n.2509T>G
ENST00000677168.1:n.1092-17T>G
ENST00000677185.1:n.1166T>G
ENST00000677205.1:n.1387T>G
ENST00000677344.1:n.1877T>G
ENST00000677480.1:c.*297-17T>G	ENSP00000504378.1:n.*297-17T>G
ENST00000677519.1:n.1330-17T>G
ENST00000677593.1:n.1159T>G
ENST00000677740.1:n.2108T>G
ENST00000677991.1:n.1793-17T>G
ENST00000678001.1:n.1113-17T>G
ENST00000678085.1:n.1159T>G
ENST00000678177.1:n.2452T>G
ENST00000678603.1:n.1698-17T>G
ENST00000678724.1:c.545-17T>G	ENSP00000503874.1:n.545-17T>G
ENST00000678920.1:n.778-17T>G
ENST00000679019.1:n.1373T>G
ENST00000679117.1:c.*435-17T>G	ENSP00000503240.1:n.*435-17T>G
ENST00000679339.1:n.1444T>G
ENST00000326739.8:c.620-17T>G	ENSP00000321584.4:n.620-17T>G
ENST00000429182.5:c.414-17T>G
ENST00000442157.1:c.545-17T>G	ENSP00000403502.1:n.545-17T>G
ENST00000462980.1:n.522-17T>G
ENST00000491610.1:n.563T>G
NM_000884.2:c.620-17T>G	NP_000875.2:n.620-17T>G
XM_006713128.2:c.830-17T>G	XP_006713191.1:n.830-17T>G
XM_006713128.3:c.830-17T>G	XP_006713191.1:n.830-17T>G
XM_017006349.1:c.755-17T>G	XP_016861838.1:n.755-17T>G
XM_017006350.1:c.755-17T>G	XP_016861839.1:n.755-17T>G
NM_000884.3:c.620-17T>G MANE Select	NP_000875.2:n.620-17T>G