Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224667G>A , CM000679.2:g.7224667G>A	GRCh38
NC_000017.10:g.7127986G>A , CM000679.1:g.7127986G>A	GRCh37
NC_000017.9:g.7068710G>A	NCBI36
NG_007975.1:g.9834G>A
NG_008391.2:g.384C>T
NG_033038.1:g.14878C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1704G>A MANE Select	ENSP00000349297.5:p.Leu568=
ENST00000322910.9:c.*1659G>A	ENSP00000325395.5:n.*1659G>A
ENST00000350303.9:c.1638G>A	ENSP00000344152.5:p.Leu546=
ENST00000356839.9:c.1704G>A	ENSP00000349297.5:p.Leu568=
ENST00000542255.6:c.537-48G>A
ENST00000543245.6:c.1773G>A	ENSP00000438689.2:p.Leu591=
ENST00000578033.1:n.35G>A
ENST00000578319.5:n.285G>A
ENST00000578711.1:n.1163G>A
ENST00000578809.5:n.276G>A
ENST00000579425.5:n.820G>A
ENST00000579546.1:c.439G>A
ENST00000583074.5:n.300-48G>A
ENST00000583848.5:c.70G>A	ENSP00000466487.1:p.Gly24Ser
ENST00000583850.5:n.475G>A
ENST00000583858.5:c.635G>A
ENST00000585203.6:n.895G>A
NM_000018.3:c.1704G>A	NP_000009.1:p.Leu568=
NM_001033859.2:c.1638G>A	NP_001029031.1:p.Leu546=
NM_001270447.1:c.1773G>A	NP_001257376.1:p.Leu591=
NM_001270448.1:c.1476G>A	NP_001257377.1:p.Leu492=
XM_006721516.2:c.1679-48G>A	XP_006721579.2:n.1679-48G>A
XM_011523829.1:c.1577-48G>A	XP_011522131.1:n.1577-48G>A
XM_011523830.1:c.1602G>A	XP_011522132.1:p.Leu534=
XR_934021.1:n.1807G>A
XR_934022.1:n.1713G>A
XR_934023.1:n.1688-48G>A
XM_006721516.3:c.1679-48G>A	XP_006721579.2:n.1679-48G>A
XM_011523829.2:c.1577-48G>A	XP_011522131.1:n.1577-48G>A
XM_011523830.2:c.1602G>A	XP_011522132.1:p.Leu534=
XM_024450741.1:c.1692G>A	XP_024306509.1:p.Leu564=
XR_934021.2:n.1759G>A
XR_934022.2:n.1665G>A
XR_934023.2:n.1640-48G>A
NM_000018.4:c.1704G>A MANE Select	NP_000009.1:p.Leu568=
NM_001033859.3:c.1638G>A	NP_001029031.1:p.Leu546=
NM_001270447.2:c.1773G>A	NP_001257376.1:p.Leu591=
NM_001270448.2:c.1476G>A	NP_001257377.1:p.Leu492=

Linked Data

Genomic Alleles

Transcript Alleles