Canonical Allele Identifier: CA124951
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15221
ClinVar RCV Id: RCV000016417 RCV000985739
dbSNP Id: rs33991294
MyVariant Identifiers: chr11:g.5247890G>C (hg19) chr11:g.5226660G>C (hg38)
PubMed: PMID:2283300 PMID:6259091 PMID:13703277
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226660G>C , CM000673.2:g.5226660G>C GRCh38
NC_000011.9:g.5247890G>C , CM000673.1:g.5247890G>C GRCh37
NC_000011.8:g.5204466G>C NCBI36
NG_000007.3:g.70956C>G
NG_059281.1:g.5412C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.232C>G ENSP00000494175.1:p.His78Asp
ENST00000335295.4:c.232C>G MANE Select ENSP00000333994.3:p.His78Asp
ENST00000380315.2:c.232C>G ENSP00000369671.2:p.His78Asp
ENST00000475226.1:n.164C>G
ENST00000485743.1:n.283C>G
ENST00000633227.1:c.*48C>G ENSP00000488004.1:n.*48C>G
NM_000518.4:c.232C>G NP_000509.1:p.His78Asp
NM_000518.5:c.232C>G MANE Select NP_000509.1:p.His78Asp
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