Canonical Allele Identifier: CA124791
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15135
ClinVar RCV Id: RCV000016298 RCV000757360 RCV003155027
dbSNP Id: rs33978338
MyVariant Identifiers: chr11:g.5247985A>G (hg19) chr11:g.5226755A>G (hg38)
PubMed: PMID:6877904
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226755A>G , CM000673.2:g.5226755A>G GRCh38
NC_000011.9:g.5247985A>G , CM000673.1:g.5247985A>G GRCh37
NC_000011.8:g.5204561A>G NCBI36
NG_000007.3:g.70861T>C
NG_059281.1:g.5317T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.137T>C ENSP00000494175.1:p.Phe46Ser
ENST00000335295.4:c.137T>C MANE Select ENSP00000333994.3:p.Phe46Ser
ENST00000380315.2:c.137T>C ENSP00000369671.2:p.Phe46Ser
ENST00000475226.1:n.69T>C
ENST00000485743.1:n.188T>C
ENST00000633227.1:c.121T>C ENSP00000488004.1:p.Leu41=
NM_000518.4:c.137T>C NP_000509.1:p.Phe46Ser
NM_000518.5:c.137T>C MANE Select NP_000509.1:p.Phe46Ser
Search 100 bp 5'
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