Canonical Allele Identifier: CA125482
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15579
ClinVar RCV Id: RCV000016846 RCV000759063
dbSNP Id: rs35960772
gnomAD v4: 11-5226639-T-C
MyVariant Identifiers: chr11:g.5247869T>C (hg19) chr11:g.5226639T>C (hg38)
PubMed: PMID:10770934
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226639T>C , CM000673.2:g.5226639T>C GRCh38
NC_000011.9:g.5247869T>C , CM000673.1:g.5247869T>C GRCh37
NC_000011.8:g.5204445T>C NCBI36
NG_000007.3:g.70977A>G
NG_059281.1:g.5433A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.253A>G ENSP00000494175.1:p.Thr85Ala
ENST00000335295.4:c.253A>G MANE Select ENSP00000333994.3:p.Thr85Ala
ENST00000380315.2:c.253A>G ENSP00000369671.2:p.Thr85Ala
ENST00000475226.1:n.185A>G
ENST00000485743.1:n.304A>G
ENST00000633227.1:c.*69A>G ENSP00000488004.1:n.*69A>G
NM_000518.4:c.253A>G NP_000509.1:p.Thr85Ala
NM_000518.5:c.253A>G MANE Select NP_000509.1:p.Thr85Ala
Search 100 bp 5'
Search 100 bp 3'