Canonical Allele Identifier: CA125136
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15332
ClinVar RCV Id: RCV000016572
dbSNP Id: rs33966487
MyVariant Identifiers: chr11:g.5247818C>G (hg19) chr11:g.5226588C>G (hg38)
PubMed: PMID:429365
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226588C>G , CM000673.2:g.5226588C>G GRCh38
NC_000011.9:g.5247818C>G , CM000673.1:g.5247818C>G GRCh37
NC_000011.8:g.5204394C>G NCBI36
NG_000007.3:g.71028G>C
NG_059281.1:g.5484G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.304G>C ENSP00000494175.1:p.Glu102Gln
ENST00000335295.4:c.304G>C MANE Select ENSP00000333994.3:p.Glu102Gln
ENST00000475226.1:n.236G>C
ENST00000485743.1:n.355G>C
ENST00000633227.1:c.*120G>C ENSP00000488004.1:n.*120G>C
NM_000518.4:c.304G>C NP_000509.1:p.Glu102Gln
NM_000518.5:c.304G>C MANE Select NP_000509.1:p.Glu102Gln
Search 100 bp 5'
Search 100 bp 3'