Canonical Allele Identifier: CA125132
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15330
ClinVar RCV Id: RCV000016570
dbSNP Id: rs35068498

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226620T>C , CM000673.2:g.5226620T>C GRCh38
NC_000011.9:g.5247850T>C , CM000673.1:g.5247850T>C GRCh37
NC_000011.8:g.5204426T>C NCBI36
NG_000007.3:g.70996A>G
NG_059281.1:g.5452A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.272A>G ENSP00000494175.1:p.Glu91Gly
ENST00000335295.4:c.272A>G MANE Select ENSP00000333994.3:p.Glu91Gly
ENST00000380315.2:c.272A>G
ENST00000475226.1:n.204A>G
ENST00000485743.1:n.323A>G
ENST00000633227.1:c.*88A>G ENSP00000488004.1:n.*88A>G
NM_000518.4:c.272A>G NP_000509.1:p.Glu91Gly
NM_000518.5:c.272A>G MANE Select NP_000509.1:p.Glu91Gly