Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224195T>C , CM000679.2:g.7224195T>C	GRCh38
NC_000017.10:g.7127514T>C , CM000679.1:g.7127514T>C	GRCh37
NC_000017.9:g.7068238T>C	NCBI36
NG_007975.1:g.9362T>C
NG_008391.2:g.856A>G
NG_033038.1:g.15350A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1484T>C MANE Select	ENSP00000349297.5:p.Phe495Ser
ENST00000322910.9:c.*1439T>C	ENSP00000325395.5:n.*1439T>C
ENST00000350303.9:c.1418T>C	ENSP00000344152.5:p.Phe473Ser
ENST00000356839.9:c.1484T>C	ENSP00000349297.5:p.Phe495Ser
ENST00000542255.6:c.342T>C
ENST00000543245.6:c.1553T>C	ENSP00000438689.2:p.Phe518Ser
ENST00000578711.1:n.691T>C
ENST00000579391.1:n.92T>C
ENST00000579425.5:n.600T>C
ENST00000579546.1:c.272-126T>C
ENST00000579894.5:n.271T>C
ENST00000583074.5:n.154-126T>C
ENST00000583850.5:n.259T>C
ENST00000583858.5:c.464-126T>C
ENST00000585203.6:n.675T>C
NM_000018.3:c.1484T>C	NP_000009.1:p.Phe495Ser
NM_001033859.2:c.1418T>C	NP_001029031.1:p.Phe473Ser
NM_001270447.1:c.1553T>C	NP_001257376.1:p.Phe518Ser
NM_001270448.1:c.1256T>C	NP_001257377.1:p.Phe419Ser
XM_006721516.2:c.1484T>C	XP_006721579.2:p.Phe495Ser
XM_011523829.1:c.1435-126T>C	XP_011522131.1:n.1435-126T>C
XM_011523830.1:c.1435-126T>C	XP_011522132.1:n.1435-126T>C
XR_934021.1:n.1591T>C
XR_934022.1:n.1542-126T>C
XR_934023.1:n.1542-126T>C
XM_006721516.3:c.1484T>C	XP_006721579.2:p.Phe495Ser
XM_011523829.2:c.1435-126T>C	XP_011522131.1:n.1435-126T>C
XM_011523830.2:c.1435-126T>C	XP_011522132.1:n.1435-126T>C
XM_024450741.1:c.1435-126T>C	XP_024306509.1:n.1435-126T>C
XR_934021.2:n.1543T>C
XR_934022.2:n.1494-126T>C
XR_934023.2:n.1494-126T>C
NM_000018.4:c.1484T>C MANE Select	NP_000009.1:p.Phe495Ser
NM_001033859.3:c.1418T>C	NP_001029031.1:p.Phe473Ser
NM_001270447.2:c.1553T>C	NP_001257376.1:p.Phe518Ser
NM_001270448.2:c.1256T>C	NP_001257377.1:p.Phe419Ser

Linked Data

Genomic Alleles

Transcript Alleles