Canonical Allele Identifier: CA125143
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15340
ClinVar RCV Id: RCV000016583
dbSNP Id: rs33978082
MyVariant Identifiers: chr11:g.5246922T>G (hg19) chr11:g.5225692T>G (hg38)
PubMed: PMID:6687721
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225692T>G , CM000673.2:g.5225692T>G GRCh38
NC_000011.9:g.5246922T>G , CM000673.1:g.5246922T>G GRCh37
NC_000011.8:g.5203498T>G NCBI36
NG_000007.3:g.71924A>C
NG_059281.1:g.6380A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.350A>C ENSP00000494175.1:p.His117Pro
ENST00000335295.4:c.350A>C MANE Select ENSP00000333994.3:p.His117Pro
ENST00000475226.1:n.282A>C
ENST00000633227.1:c.*166A>C ENSP00000488004.1:n.*166A>C
NM_000518.4:c.350A>C NP_000509.1:p.His117Pro
NM_000518.5:c.350A>C MANE Select NP_000509.1:p.His117Pro
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