Canonical Allele Identifier: CA1053766
Gene: HJV HGNC NCBI

Linked Data

ClinVar Variation Id: 3106086
ClinVar RCV Id: RCV004399476
dbSNP Id: rs185631771

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019623C>A , CM000663.2:g.146019623C>A GRCh38
NC_000001.10:g.145415390G>T , CM000663.1:g.145415390G>T GRCh37
NC_000001.9:g.144126747G>T NCBI36
NG_011568.1:g.7200G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.209G>T MANE Select ENSP00000337014.5:p.Arg70Leu
ENST00000636675.1:c.-22+75G>T ENSP00000490072.1:n.-22+75G>T
ENST00000336751.10:c.209G>T ENSP00000337014.5:p.Arg70Leu
ENST00000357836.5:c.-131G>T ENSP00000350495.5:n.-131G>T
ENST00000421822.2:c.209G>T ENSP00000411863.2:p.Arg70Leu
ENST00000475797.1:c.-21-923G>T ENSP00000425716.1:n.-21-923G>T
ENST00000497365.5:c.-22+75G>T ENSP00000421820.1:n.-22+75G>T
ENST00000634927.1:c.134+75G>T ENSP00000489347.1:n.134+75G>T
NM_001316767.1:c.-22+75G>T NP_001303696.1:n.-22+75G>T
NM_145277.4:c.-131G>T NP_660320.3:n.-131G>T
NM_202004.3:c.-22+75G>T NP_973733.1:n.-22+75G>T
NM_213652.3:c.-21-923G>T NP_998817.1:n.-21-923G>T
NM_213653.3:c.209G>T NP_998818.1:p.Arg70Leu
XM_005272932.1:c.209G>T XP_005272989.1:p.Arg70Leu
NM_001316767.2:c.-22+75G>T NP_001303696.1:n.-22+75G>T
NM_145277.5:c.-131G>T NP_660320.3:n.-131G>T
NM_202004.4:c.-22+75G>T NP_973733.1:n.-22+75G>T
NM_213652.4:c.-21-923G>T NP_998817.1:n.-21-923G>T
NM_001379352.1:c.209G>T NP_001366281.1:p.Arg70Leu
NM_213653.4:c.209G>T MANE Select NP_998818.1:p.Arg70Leu