Canonical Allele Identifier: CA472885867
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 495999
ClinVar RCV Id: RCV000586539 RCV003574782
dbSNP Id: rs1554918207
MyVariant Identifiers: chr11:g.5248213A>G (hg19) chr11:g.5226983A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226983A>G , CM000673.2:g.5226983A>G GRCh38
NC_000011.9:g.5248213A>G , CM000673.1:g.5248213A>G GRCh37
NC_000011.8:g.5204789A>G NCBI36
NG_000007.3:g.70633T>C
NG_059281.1:g.5089T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.39T>C ENSP00000494175.1:p.Thr13=
ENST00000335295.4:c.39T>C MANE Select ENSP00000333994.3:p.Thr13=
ENST00000380315.2:c.39T>C ENSP00000369671.2:p.Thr13=
ENST00000485743.1:n.90T>C
ENST00000633227.1:c.39T>C ENSP00000488004.1:p.Thr13=
NM_000518.4:c.39T>C NP_000509.1:p.Thr13=
NM_000518.5:c.39T>C MANE Select NP_000509.1:p.Thr13=
Search 100 bp 5'
Search 100 bp 3'