Canonical Allele Identifier: CA472885766
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 495976
ClinVar RCV Id: RCV002061974
dbSNP Id: rs1554917961
COSMIC: COSM4526786
MyVariant Identifiers: chr11:g.5247981C>T (hg19) chr11:g.5226751C>T (hg38)
PubMed: PMID:25303977
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226751C>T , CM000673.2:g.5226751C>T GRCh38
NC_000011.9:g.5247981C>T , CM000673.1:g.5247981C>T GRCh37
NC_000011.8:g.5204557C>T NCBI36
NG_000007.3:g.70865G>A
NG_059281.1:g.5321G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.141G>A ENSP00000494175.1:p.Gly47=
ENST00000335295.4:c.141G>A MANE Select ENSP00000333994.3:p.Gly47=
ENST00000380315.2:c.141G>A ENSP00000369671.2:p.Gly47=
ENST00000475226.1:n.73G>A
ENST00000485743.1:n.192G>A
ENST00000633227.1:c.125G>A ENSP00000488004.1:p.Gly42Glu
NM_000518.4:c.141G>A NP_000509.1:p.Gly47=
NM_000518.5:c.141G>A MANE Select NP_000509.1:p.Gly47=
Search 100 bp 5'
Search 100 bp 3'