Canonical Allele Identifier: CA125040
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15274
ClinVar RCV Id: RCV000016500
dbSNP Id: rs33950993
gnomAD v3: 11-5226600-G-A
gnomAD v4: 11-5226600-G-A
MyVariant Identifiers: chr11:g.5247830G>A (hg19) chr11:g.5226600G>A (hg38)
PubMed: PMID:2634673
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226600G>A , CM000673.2:g.5226600G>A GRCh38
NC_000011.9:g.5247830G>A , CM000673.1:g.5247830G>A GRCh37
NC_000011.8:g.5204406G>A NCBI36
NG_000007.3:g.71016C>T
NG_059281.1:g.5472C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.292C>T ENSP00000494175.1:p.His98Tyr
ENST00000335295.4:c.292C>T MANE Select ENSP00000333994.3:p.His98Tyr
ENST00000475226.1:n.224C>T
ENST00000485743.1:n.343C>T
ENST00000633227.1:c.*108C>T ENSP00000488004.1:n.*108C>T
NM_000518.4:c.292C>T NP_000509.1:p.His98Tyr
NM_000518.5:c.292C>T MANE Select NP_000509.1:p.His98Tyr
Search 100 bp 5'
Search 100 bp 3'