Canonical Allele Identifier: CA125066
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15290
ClinVar RCV Id: RCV000016521
dbSNP Id: rs33966761
gnomAD v3: 11-5225638-A-T
gnomAD v4: 11-5225638-A-T
MyVariant Identifiers: chr11:g.5246868A>T (hg19) chr11:g.5225638A>T (hg38)
PubMed: PMID:891976 PMID:3588028
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225638A>T , CM000673.2:g.5225638A>T GRCh38
NC_000011.9:g.5246868A>T , CM000673.1:g.5246868A>T GRCh37
NC_000011.8:g.5203444A>T NCBI36
NG_000007.3:g.71978T>A
NG_059281.1:g.6434T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.404T>A ENSP00000494175.1:p.Val135Glu
ENST00000335295.4:c.404T>A MANE Select ENSP00000333994.3:p.Val135Glu
ENST00000633227.1:c.*220T>A ENSP00000488004.1:n.*220T>A
NM_000518.4:c.404T>A NP_000509.1:p.Val135Glu
NM_000518.5:c.404T>A MANE Select NP_000509.1:p.Val135Glu
Search 100 bp 5'
Search 100 bp 3'