Canonical Allele Identifier: CA125128
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15328
ClinVar RCV Id: RCV000016567
dbSNP Id: rs33972975

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226949C>G , CM000673.2:g.5226949C>G GRCh38
NC_000011.9:g.5248179C>G , CM000673.1:g.5248179C>G GRCh37
NC_000011.8:g.5204755C>G NCBI36
NG_000007.3:g.70667G>C
NG_059281.1:g.5123G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.73G>C ENSP00000494175.1:p.Gly25Arg
ENST00000335295.4:c.73G>C MANE Select ENSP00000333994.3:p.Gly25Arg
ENST00000380315.2:c.73G>C ENSP00000369671.2:p.Gly25Arg
ENST00000485743.1:n.124G>C
ENST00000633227.1:c.73G>C ENSP00000488004.1:p.Gly25Arg
NM_000518.4:c.73G>C NP_000509.1:p.Gly25Arg
NM_000518.5:c.73G>C MANE Select NP_000509.1:p.Gly25Arg