Canonical Allele Identifier: CA124787
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15133
ClinVar RCV Id: RCV000016296
dbSNP Id: rs34579351

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226608T>C , CM000673.2:g.5226608T>C GRCh38
NC_000011.9:g.5247838T>C , CM000673.1:g.5247838T>C GRCh37
NC_000011.8:g.5204414T>C NCBI36
NG_000007.3:g.71008A>G
NG_059281.1:g.5464A>G

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.284A>G VV NP_000509.1:p.Asp95Gly
NM_000518.5:c.284A>G VV MANE Preferred NP_000509.1:p.Asp95Gly
ENST00000335295.4:c.284A>G ENSP00000333994.3:p.Asp95Gly
ENST00000475226.1:n.216A>G
ENST00000485743.1:n.335A>G
ENST00000633227.1:c.*100A>G ENSP00000488004.1:p.=