Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224516G>C , CM000679.2:g.7224516G>C	GRCh38
NC_000017.10:g.7127835G>C , CM000679.1:g.7127835G>C	GRCh37
NC_000017.9:g.7068559G>C	NCBI36
NG_007975.1:g.9683G>C
NG_008391.2:g.535C>G
NG_033038.1:g.15029C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1642G>C MANE Select	ENSP00000349297.5:p.Glu548Gln
ENST00000322910.9:c.*1597G>C	ENSP00000325395.5:n.*1597G>C
ENST00000350303.9:c.1576G>C	ENSP00000344152.5:p.Glu526Gln
ENST00000356839.9:c.1642G>C	ENSP00000349297.5:p.Glu548Gln
ENST00000542255.6:c.500G>C
ENST00000543245.6:c.1711G>C	ENSP00000438689.2:p.Glu571Gln
ENST00000578319.5:n.223G>C
ENST00000578711.1:n.1012G>C
ENST00000578809.5:n.214G>C
ENST00000579391.1:n.246G>C
ENST00000579425.5:n.758G>C
ENST00000579546.1:c.377G>C
ENST00000579894.5:n.429G>C
ENST00000582450.1:n.150G>C
ENST00000583074.5:n.263G>C
ENST00000583848.5:c.28G>C	ENSP00000466487.1:p.Glu10Gln
ENST00000583850.5:n.413G>C
ENST00000583858.5:c.573G>C
ENST00000585203.6:n.833G>C
NM_000018.3:c.1642G>C	NP_000009.1:p.Glu548Gln
NM_001033859.2:c.1576G>C	NP_001029031.1:p.Glu526Gln
NM_001270447.1:c.1711G>C	NP_001257376.1:p.Glu571Gln
NM_001270448.1:c.1414G>C	NP_001257377.1:p.Glu472Gln
XM_006721516.2:c.1642G>C	XP_006721579.2:p.Glu548Gln
XM_011523829.1:c.1540G>C	XP_011522131.1:p.Glu514Gln
XM_011523830.1:c.1540G>C	XP_011522132.1:p.Glu514Gln
XR_934021.1:n.1745G>C
XR_934022.1:n.1651G>C
XR_934023.1:n.1651G>C
XM_006721516.3:c.1642G>C	XP_006721579.2:p.Glu548Gln
XM_011523829.2:c.1540G>C	XP_011522131.1:p.Glu514Gln
XM_011523830.2:c.1540G>C	XP_011522132.1:p.Glu514Gln
XM_024450741.1:c.1630G>C	XP_024306509.1:p.Glu544Gln
XR_934021.2:n.1697G>C
XR_934022.2:n.1603G>C
XR_934023.2:n.1603G>C
NM_000018.4:c.1642G>C MANE Select	NP_000009.1:p.Glu548Gln
NM_001033859.3:c.1576G>C	NP_001029031.1:p.Glu526Gln
NM_001270447.2:c.1711G>C	NP_001257376.1:p.Glu571Gln
NM_001270448.2:c.1414G>C	NP_001257377.1:p.Glu472Gln

Linked Data

Genomic Alleles

Transcript Alleles