Canonical Allele Identifier: CA342133087
Gene: HJV HGNC NCBI

Linked Data

ClinVar Variation Id: 874086
ClinVar RCV Id: RCV001096741
dbSNP Id: rs1652457505

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018274C>T , CM000663.2:g.146018274C>T GRCh38
NC_000001.10:g.145416739G>A , CM000663.1:g.145416739G>A GRCh37
NC_000001.9:g.144128096G>A NCBI36
NG_011568.1:g.8549G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.1084G>A MANE Select ENSP00000337014.5:p.Val362Ile
ENST00000636675.1:c.406G>A ENSP00000490072.1:p.Val136Ile
ENST00000336751.10:c.1084G>A ENSP00000337014.5:p.Val362Ile
ENST00000357836.5:c.745G>A ENSP00000350495.5:p.Val249Ile
ENST00000475797.1:c.406G>A ENSP00000425716.1:p.Val136Ile
ENST00000497365.5:c.406G>A ENSP00000421820.1:p.Val136Ile
NM_001316767.1:c.406G>A NP_001303696.1:p.Val136Ile
NM_145277.4:c.745G>A NP_660320.3:p.Val249Ile
NM_202004.3:c.406G>A NP_973733.1:p.Val136Ile
NM_213652.3:c.406G>A NP_998817.1:p.Val136Ile
NM_213653.3:c.1084G>A NP_998818.1:p.Val362Ile
XM_005272932.1:c.1084G>A XP_005272989.1:p.Val362Ile
NM_001316767.2:c.406G>A NP_001303696.1:p.Val136Ile
NM_145277.5:c.745G>A NP_660320.3:p.Val249Ile
NM_202004.4:c.406G>A NP_973733.1:p.Val136Ile
NM_213652.4:c.406G>A NP_998817.1:p.Val136Ile
NM_001379352.1:c.1084G>A NP_001366281.1:p.Val362Ile
NM_213653.4:c.1084G>A MANE Select NP_998818.1:p.Val362Ile