Canonical Allele Identifier: CA379274482
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 993224
ClinVar RCV Id: RCV001284627
dbSNP Id: rs34743882
MyVariant Identifiers: chr11:g.5247983C>G (hg19) chr11:g.5226753C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226753C>G , CM000673.2:g.5226753C>G GRCh38
NC_000011.9:g.5247983C>G , CM000673.1:g.5247983C>G GRCh37
NC_000011.8:g.5204559C>G NCBI36
NG_000007.3:g.70863G>C
NG_059281.1:g.5319G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.139G>C ENSP00000494175.1:p.Gly47Arg
ENST00000335295.4:c.139G>C MANE Select ENSP00000333994.3:p.Gly47Arg
ENST00000380315.2:c.139G>C ENSP00000369671.2:p.Gly47Arg
ENST00000475226.1:n.71G>C
ENST00000485743.1:n.190G>C
ENST00000633227.1:c.123G>C ENSP00000488004.1:p.Leu41Phe
NM_000518.4:c.139G>C NP_000509.1:p.Gly47Arg
NM_000518.5:c.139G>C MANE Select NP_000509.1:p.Gly47Arg
Search 100 bp 5'
Search 100 bp 3'