Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026985A>T , CM000665.2:g.49026985A>T	GRCh38
NC_000003.11:g.49064418A>T , CM000665.1:g.49064418A>T	GRCh37
NC_000003.10:g.49039422A>T	NCBI36
NG_012091.1:g.7458T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2634T>A	ENSP00000515567.1:p.Asn878Lys
ENST00000703937.1:c.*1695T>A	ENSP00000515568.1:n.*1695T>A
ENST00000326739.9:c.594T>A MANE Select	ENSP00000321584.4:p.Asn198Lys
ENST00000429182.6:c.594T>A	ENSP00000393525.2:p.Asn198Lys
ENST00000442157.2:c.519T>A	ENSP00000403502.2:p.Asn173Lys
ENST00000462980.2:n.1109T>A
ENST00000472328.2:n.660T>A
ENST00000491610.2:n.481T>A
ENST00000676607.1:n.890T>A
ENST00000676627.1:n.1324T>A
ENST00000676708.1:n.1801T>A
ENST00000676864.1:n.1670T>A
ENST00000677010.1:c.630T>A	ENSP00000503089.1:p.Asn210Lys
ENST00000677108.1:n.2427T>A
ENST00000677168.1:n.1066T>A
ENST00000677185.1:n.1084T>A
ENST00000677205.1:n.1305T>A
ENST00000677344.1:n.1795T>A
ENST00000677480.1:c.*271T>A	ENSP00000504378.1:n.*271T>A
ENST00000677519.1:n.1304T>A
ENST00000677593.1:n.1077T>A
ENST00000677740.1:n.2026T>A
ENST00000677991.1:n.1767T>A
ENST00000678001.1:n.1087T>A
ENST00000678085.1:n.1077T>A
ENST00000678177.1:n.2370T>A
ENST00000678603.1:n.1672T>A
ENST00000678724.1:c.519T>A	ENSP00000503874.1:p.Asn173Lys
ENST00000678920.1:n.752T>A
ENST00000679019.1:n.1291T>A
ENST00000679117.1:c.*409T>A	ENSP00000503240.1:n.*409T>A
ENST00000679339.1:n.1362T>A
ENST00000326739.8:c.594T>A	ENSP00000321584.4:p.Asn198Lys
ENST00000429182.5:c.388T>A
ENST00000442157.1:c.519T>A	ENSP00000403502.1:p.Asn173Lys
ENST00000462980.1:n.496T>A
ENST00000491610.1:n.481T>A
NM_000884.2:c.594T>A	NP_000875.2:p.Asn198Lys
XM_006713128.2:c.804T>A	XP_006713191.1:p.Asn268Lys
XM_006713128.3:c.804T>A	XP_006713191.1:p.Asn268Lys
XM_017006349.1:c.729T>A	XP_016861838.1:p.Asn243Lys
XM_017006350.1:c.729T>A	XP_016861839.1:p.Asn243Lys
NM_000884.3:c.594T>A MANE Select	NP_000875.2:p.Asn198Lys

Linked Data

Genomic Alleles

Transcript Alleles