Canonical Allele Identifier: CA118720
Gene: HR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7335
ClinVar RCV Id: RCV000007760
dbSNP Id: rs121434449

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22123727G>A , CM000670.2:g.22123727G>A GRCh38
NC_000008.9:g.22037185G>A NCBI36
NC_000008.10:g.21981240G>A , CM000670.1:g.21981240G>A GRCh37
NG_008166.1:g.11791C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000312841.9:c.1837C>T ENSP00000326765.8:p.Arg613Ter
ENST00000381418.8:c.1837C>T ENSP00000370826.4:p.Arg613Ter
NM_005144.4:c.1837C>T NP_005135.2:p.Arg613Ter
NM_018411.4:c.1837C>T NP_060881.2:p.Arg613Ter
XM_005273569.1:c.1840C>T XP_005273626.1:p.Arg614Ter
XM_006716367.1:c.1840C>T XP_006716430.1:p.Arg614Ter