Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224511T>C , CM000679.2:g.7224511T>C	GRCh38
NC_000017.10:g.7127830T>C , CM000679.1:g.7127830T>C	GRCh37
NC_000017.9:g.7068554T>C	NCBI36
NG_007975.1:g.9678T>C
NG_008391.2:g.540A>G
NG_033038.1:g.15034A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1637T>C MANE Select	ENSP00000349297.5:p.Val546Ala
ENST00000322910.9:c.*1592T>C	ENSP00000325395.5:n.*1592T>C
ENST00000350303.9:c.1571T>C	ENSP00000344152.5:p.Val524Ala
ENST00000356839.9:c.1637T>C	ENSP00000349297.5:p.Val546Ala
ENST00000542255.6:c.495T>C
ENST00000543245.6:c.1706T>C	ENSP00000438689.2:p.Val569Ala
ENST00000578319.5:n.218T>C
ENST00000578711.1:n.1007T>C
ENST00000578809.5:n.209T>C
ENST00000579391.1:n.241T>C
ENST00000579425.5:n.753T>C
ENST00000579546.1:c.372T>C
ENST00000579894.5:n.424T>C
ENST00000582450.1:n.145T>C
ENST00000583074.5:n.258T>C
ENST00000583848.5:c.23T>C	ENSP00000466487.1:p.Val8Ala
ENST00000583850.5:n.408T>C
ENST00000583858.5:c.568T>C
ENST00000585203.6:n.828T>C
NM_000018.3:c.1637T>C	NP_000009.1:p.Val546Ala
NM_001033859.2:c.1571T>C	NP_001029031.1:p.Val524Ala
NM_001270447.1:c.1706T>C	NP_001257376.1:p.Val569Ala
NM_001270448.1:c.1409T>C	NP_001257377.1:p.Val470Ala
XM_006721516.2:c.1637T>C	XP_006721579.2:p.Val546Ala
XM_011523829.1:c.1535T>C	XP_011522131.1:p.Val512Ala
XM_011523830.1:c.1535T>C	XP_011522132.1:p.Val512Ala
XR_934021.1:n.1740T>C
XR_934022.1:n.1646T>C
XR_934023.1:n.1646T>C
XM_006721516.3:c.1637T>C	XP_006721579.2:p.Val546Ala
XM_011523829.2:c.1535T>C	XP_011522131.1:p.Val512Ala
XM_011523830.2:c.1535T>C	XP_011522132.1:p.Val512Ala
XM_024450741.1:c.1625T>C	XP_024306509.1:p.Val542Ala
XR_934021.2:n.1692T>C
XR_934022.2:n.1598T>C
XR_934023.2:n.1598T>C
NM_000018.4:c.1637T>C MANE Select	NP_000009.1:p.Val546Ala
NM_001033859.3:c.1571T>C	NP_001029031.1:p.Val524Ala
NM_001270447.2:c.1706T>C	NP_001257376.1:p.Val569Ala
NM_001270448.2:c.1409T>C	NP_001257377.1:p.Val470Ala

Linked Data

Genomic Alleles

Transcript Alleles