Canonical Allele Identifier: CA472885754
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1153698
ClinVar RCV Id: RCV001495468
dbSNP Id: rs2133588564
COSMIC: COSM3666372
MyVariant Identifiers: chr11:g.5247972G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226742G>T , CM000673.2:g.5226742G>T GRCh38
NC_000011.9:g.5247972G>T , CM000673.1:g.5247972G>T GRCh37
NC_000011.8:g.5204548G>T NCBI36
NG_000007.3:g.70874C>A
NG_059281.1:g.5330C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.150C>A ENSP00000494175.1:p.Ser50=
ENST00000335295.4:c.150C>A MANE Select ENSP00000333994.3:p.Ser50=
ENST00000380315.2:c.150C>A ENSP00000369671.2:p.Ser50=
ENST00000475226.1:n.82C>A
ENST00000485743.1:n.201C>A
ENST00000633227.1:c.134C>A ENSP00000488004.1:p.Pro45Gln
NM_000518.4:c.150C>A NP_000509.1:p.Ser50=
NM_000518.5:c.150C>A MANE Select NP_000509.1:p.Ser50=
Search 100 bp 5'
Search 100 bp 3'