Canonical Allele Identifier: CA336923
Gene: HJV HGNC NCBI

Linked Data

ClinVar Variation Id: 216847
ClinVar RCV Id: RCV001343367
dbSNP Id: rs863224819

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018609C>A , CM000663.2:g.146018609C>A GRCh38
NC_000001.10:g.145416404G>T , CM000663.1:g.145416404G>T GRCh37
NC_000001.9:g.144127761G>T NCBI36
NG_011568.1:g.8214G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.749G>T MANE Select ENSP00000337014.5:p.Gly250Val
ENST00000636675.1:c.71G>T ENSP00000490072.1:p.Gly24Val
ENST00000336751.10:c.749G>T ENSP00000337014.5:p.Gly250Val
ENST00000357836.5:c.410G>T ENSP00000350495.5:p.Gly137Val
ENST00000475797.1:c.71G>T ENSP00000425716.1:p.Gly24Val
ENST00000497365.5:c.71G>T ENSP00000421820.1:p.Gly24Val
ENST00000634927.1:c.*13G>T ENSP00000489347.1:n.*13G>T
NM_001316767.1:c.71G>T NP_001303696.1:p.Gly24Val
NM_145277.4:c.410G>T NP_660320.3:p.Gly137Val
NM_202004.3:c.71G>T NP_973733.1:p.Gly24Val
NM_213652.3:c.71G>T NP_998817.1:p.Gly24Val
NM_213653.3:c.749G>T NP_998818.1:p.Gly250Val
XM_005272932.1:c.749G>T XP_005272989.1:p.Gly250Val
NM_001316767.2:c.71G>T NP_001303696.1:p.Gly24Val
NM_145277.5:c.410G>T NP_660320.3:p.Gly137Val
NM_202004.4:c.71G>T NP_973733.1:p.Gly24Val
NM_213652.4:c.71G>T NP_998817.1:p.Gly24Val
NM_001379352.1:c.749G>T NP_001366281.1:p.Gly250Val
NM_213653.4:c.749G>T MANE Select NP_998818.1:p.Gly250Val