Canonical Allele Identifier: CA124985
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15240
ClinVar RCV Id: RCV000016442
dbSNP Id: rs35914488
MyVariant Identifiers: chr11:g.5247868G>A (hg19) chr11:g.5226638G>A (hg38)
PubMed: PMID:3744871
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226638G>A , CM000673.2:g.5226638G>A GRCh38
NC_000011.9:g.5247868G>A , CM000673.1:g.5247868G>A GRCh37
NC_000011.8:g.5204444G>A NCBI36
NG_000007.3:g.70978C>T
NG_059281.1:g.5434C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.254C>T ENSP00000494175.1:p.Thr85Ile
ENST00000335295.4:c.254C>T MANE Select ENSP00000333994.3:p.Thr85Ile
ENST00000380315.2:c.254C>T ENSP00000369671.2:p.Thr85Ile
ENST00000475226.1:n.186C>T
ENST00000485743.1:n.305C>T
ENST00000633227.1:c.*70C>T ENSP00000488004.1:n.*70C>T
NM_000518.4:c.254C>T NP_000509.1:p.Thr85Ile
NM_000518.5:c.254C>T MANE Select NP_000509.1:p.Thr85Ile
Search 100 bp 5'
Search 100 bp 3'