Canonical Allele Identifier: CA342142850
Gene: HJV HGNC NCBI

Linked Data

ClinVar Variation Id: 806203
ClinVar RCV Id: RCV000994088
dbSNP Id: rs1571046010

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019560C>G , CM000663.2:g.146019560C>G GRCh38
NC_000001.10:g.145415453G>C , CM000663.1:g.145415453G>C GRCh37
NC_000001.9:g.144126810G>C NCBI36
NG_011568.1:g.7263G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.272G>C MANE Select ENSP00000337014.5:p.Arg91Pro
ENST00000636675.1:c.-22+138G>C ENSP00000490072.1:n.-22+138G>C
ENST00000336751.10:c.272G>C ENSP00000337014.5:p.Arg91Pro
ENST00000357836.5:c.-68G>C ENSP00000350495.5:n.-68G>C
ENST00000421822.2:c.272G>C ENSP00000411863.2:p.Arg91Pro
ENST00000475797.1:c.-21-860G>C ENSP00000425716.1:n.-21-860G>C
ENST00000497365.5:c.-22+138G>C ENSP00000421820.1:n.-22+138G>C
ENST00000634927.1:c.134+138G>C ENSP00000489347.1:n.134+138G>C
NM_001316767.1:c.-22+138G>C NP_001303696.1:n.-22+138G>C
NM_145277.4:c.-68G>C NP_660320.3:n.-68G>C
NM_202004.3:c.-22+138G>C NP_973733.1:n.-22+138G>C
NM_213652.3:c.-21-860G>C NP_998817.1:n.-21-860G>C
NM_213653.3:c.272G>C NP_998818.1:p.Arg91Pro
XM_005272932.1:c.272G>C XP_005272989.1:p.Arg91Pro
NM_001316767.2:c.-22+138G>C NP_001303696.1:n.-22+138G>C
NM_145277.5:c.-68G>C NP_660320.3:n.-68G>C
NM_202004.4:c.-22+138G>C NP_973733.1:n.-22+138G>C
NM_213652.4:c.-21-860G>C NP_998817.1:n.-21-860G>C
NM_001379352.1:c.272G>C NP_001366281.1:p.Arg91Pro
NM_213653.4:c.272G>C MANE Select NP_998818.1:p.Arg91Pro