Canonical Allele Identifier: CA252255
Gene: HJV HGNC NCBI

Linked Data

ClinVar Variation Id: 2369
dbSNP Id: rs28940586

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019594A>G , CM000663.2:g.146019594A>G GRCh38
NC_000001.10:g.145415419T>C , CM000663.1:g.145415419T>C GRCh37
NC_000001.9:g.144126776T>C NCBI36
NG_011568.1:g.7229T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000336751.11:c.238T>C MANE Select ENSP00000337014.5:p.Cys80Arg
ENST00000636675.1:c.-22+104T>C ENSP00000490072.1:n.-22+104T>C
ENST00000336751.10:c.238T>C ENSP00000337014.5:p.Cys80Arg
ENST00000357836.5:c.-102T>C ENSP00000350495.5:n.-102T>C
ENST00000421822.2:c.238T>C ENSP00000411863.2:p.Cys80Arg
ENST00000475797.1:c.-21-894T>C ENSP00000425716.1:n.-21-894T>C
ENST00000497365.5:c.-22+104T>C ENSP00000421820.1:n.-22+104T>C
ENST00000634927.1:c.134+104T>C ENSP00000489347.1:n.134+104T>C
NM_001316767.1:c.-22+104T>C NP_001303696.1:n.-22+104T>C
NM_145277.4:c.-102T>C NP_660320.3:n.-102T>C
NM_202004.3:c.-22+104T>C NP_973733.1:n.-22+104T>C
NM_213652.3:c.-21-894T>C NP_998817.1:n.-21-894T>C
NM_213653.3:c.238T>C NP_998818.1:p.Cys80Arg
XM_005272932.1:c.238T>C XP_005272989.1:p.Cys80Arg
NM_001316767.2:c.-22+104T>C NP_001303696.1:n.-22+104T>C
NM_145277.5:c.-102T>C NP_660320.3:n.-102T>C
NM_202004.4:c.-22+104T>C NP_973733.1:n.-22+104T>C
NM_213652.4:c.-21-894T>C NP_998817.1:n.-21-894T>C
NM_001379352.1:c.238T>C NP_001366281.1:p.Cys80Arg
NM_213653.4:c.238T>C MANE Select NP_998818.1:p.Cys80Arg