Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224514T>A , CM000679.2:g.7224514T>A	GRCh38
NC_000017.10:g.7127833T>A , CM000679.1:g.7127833T>A	GRCh37
NC_000017.9:g.7068557T>A	NCBI36
NG_007975.1:g.9681T>A
NG_008391.2:g.537A>T
NG_033038.1:g.15031A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1640T>A MANE Select	ENSP00000349297.5:p.Val547Glu
ENST00000322910.9:c.*1595T>A	ENSP00000325395.5:n.*1595T>A
ENST00000350303.9:c.1574T>A	ENSP00000344152.5:p.Val525Glu
ENST00000356839.9:c.1640T>A	ENSP00000349297.5:p.Val547Glu
ENST00000542255.6:c.498T>A
ENST00000543245.6:c.1709T>A	ENSP00000438689.2:p.Val570Glu
ENST00000578319.5:n.221T>A
ENST00000578711.1:n.1010T>A
ENST00000578809.5:n.212T>A
ENST00000579391.1:n.244T>A
ENST00000579425.5:n.756T>A
ENST00000579546.1:c.375T>A
ENST00000579894.5:n.427T>A
ENST00000582450.1:n.148T>A
ENST00000583074.5:n.261T>A
ENST00000583848.5:c.26T>A	ENSP00000466487.1:p.Val9Glu
ENST00000583850.5:n.411T>A
ENST00000583858.5:c.571T>A
ENST00000585203.6:n.831T>A
NM_000018.3:c.1640T>A	NP_000009.1:p.Val547Glu
NM_001033859.2:c.1574T>A	NP_001029031.1:p.Val525Glu
NM_001270447.1:c.1709T>A	NP_001257376.1:p.Val570Glu
NM_001270448.1:c.1412T>A	NP_001257377.1:p.Val471Glu
XM_006721516.2:c.1640T>A	XP_006721579.2:p.Val547Glu
XM_011523829.1:c.1538T>A	XP_011522131.1:p.Val513Glu
XM_011523830.1:c.1538T>A	XP_011522132.1:p.Val513Glu
XR_934021.1:n.1743T>A
XR_934022.1:n.1649T>A
XR_934023.1:n.1649T>A
XM_006721516.3:c.1640T>A	XP_006721579.2:p.Val547Glu
XM_011523829.2:c.1538T>A	XP_011522131.1:p.Val513Glu
XM_011523830.2:c.1538T>A	XP_011522132.1:p.Val513Glu
XM_024450741.1:c.1628T>A	XP_024306509.1:p.Val543Glu
XR_934021.2:n.1695T>A
XR_934022.2:n.1601T>A
XR_934023.2:n.1601T>A
NM_000018.4:c.1640T>A MANE Select	NP_000009.1:p.Val547Glu
NM_001033859.3:c.1574T>A	NP_001029031.1:p.Val525Glu
NM_001270447.2:c.1709T>A	NP_001257376.1:p.Val570Glu
NM_001270448.2:c.1412T>A	NP_001257377.1:p.Val471Glu

Linked Data

Genomic Alleles

Transcript Alleles