Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224550T>C , CM000679.2:g.7224550T>C	GRCh38
NC_000017.10:g.7127869T>C , CM000679.1:g.7127869T>C	GRCh37
NC_000017.9:g.7068593T>C	NCBI36
NG_007975.1:g.9717T>C
NG_008391.2:g.501A>G
NG_033038.1:g.14995A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1676T>C MANE Select	ENSP00000349297.5:p.Val559Ala
ENST00000322910.9:c.*1631T>C	ENSP00000325395.5:n.*1631T>C
ENST00000350303.9:c.1610T>C	ENSP00000344152.5:p.Val537Ala
ENST00000356839.9:c.1676T>C	ENSP00000349297.5:p.Val559Ala
ENST00000542255.6:c.534T>C
ENST00000543245.6:c.1745T>C	ENSP00000438689.2:p.Val582Ala
ENST00000578319.5:n.257T>C
ENST00000578711.1:n.1046T>C
ENST00000578809.5:n.248T>C
ENST00000579391.1:n.280T>C
ENST00000579425.5:n.792T>C
ENST00000579546.1:c.411T>C
ENST00000582450.1:n.184T>C
ENST00000583074.5:n.297T>C
ENST00000583848.5:c.62T>C	ENSP00000466487.1:p.Val21Ala
ENST00000583850.5:n.447T>C
ENST00000583858.5:c.607T>C
ENST00000585203.6:n.867T>C
NM_000018.3:c.1676T>C	NP_000009.1:p.Val559Ala
NM_001033859.2:c.1610T>C	NP_001029031.1:p.Val537Ala
NM_001270447.1:c.1745T>C	NP_001257376.1:p.Val582Ala
NM_001270448.1:c.1448T>C	NP_001257377.1:p.Val483Ala
XM_006721516.2:c.1676T>C	XP_006721579.2:p.Val559Ala
XM_011523829.1:c.1574T>C	XP_011522131.1:p.Val525Ala
XM_011523830.1:c.1574T>C	XP_011522132.1:p.Val525Ala
XR_934021.1:n.1779T>C
XR_934022.1:n.1685T>C
XR_934023.1:n.1685T>C
XM_006721516.3:c.1676T>C	XP_006721579.2:p.Val559Ala
XM_011523829.2:c.1574T>C	XP_011522131.1:p.Val525Ala
XM_011523830.2:c.1574T>C	XP_011522132.1:p.Val525Ala
XM_024450741.1:c.1664T>C	XP_024306509.1:p.Val555Ala
XR_934021.2:n.1731T>C
XR_934022.2:n.1637T>C
XR_934023.2:n.1637T>C
NM_000018.4:c.1676T>C MANE Select	NP_000009.1:p.Val559Ala
NM_001033859.3:c.1610T>C	NP_001029031.1:p.Val537Ala
NM_001270447.2:c.1745T>C	NP_001257376.1:p.Val582Ala
NM_001270448.2:c.1448T>C	NP_001257377.1:p.Val483Ala

Linked Data

Genomic Alleles

Transcript Alleles