Canonical Allele Identifier: CA125449
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15561
ClinVar RCV Id: RCV000016827
dbSNP Id: rs33940051
MyVariant Identifiers: chr11:g.5247875T>C (hg19) chr11:g.5226645T>C (hg38)
PubMed: PMID:9255613
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226645T>C , CM000673.2:g.5226645T>C GRCh38
NC_000011.9:g.5247875T>C , CM000673.1:g.5247875T>C GRCh37
NC_000011.8:g.5204451T>C NCBI36
NG_000007.3:g.70971A>G
NG_059281.1:g.5427A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.247A>G ENSP00000494175.1:p.Lys83Glu
ENST00000335295.4:c.247A>G MANE Select ENSP00000333994.3:p.Lys83Glu
ENST00000380315.2:c.247A>G ENSP00000369671.2:p.Lys83Glu
ENST00000475226.1:n.179A>G
ENST00000485743.1:n.298A>G
ENST00000633227.1:c.*63A>G ENSP00000488004.1:n.*63A>G
NM_000518.4:c.247A>G NP_000509.1:p.Lys83Glu
NM_000518.5:c.247A>G MANE Select NP_000509.1:p.Lys83Glu
Search 100 bp 5'
Search 100 bp 3'