Canonical Allele Identifier: CA125544
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15622
ClinVar RCV Id: RCV000016889
dbSNP Id: rs34703513
MyVariant Identifiers: chr11:g.5248006G>A (hg19) chr11:g.5226776G>A (hg38)
PubMed: PMID:16840229
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226776G>A , CM000673.2:g.5226776G>A GRCh38
NC_000011.9:g.5248006G>A , CM000673.1:g.5248006G>A GRCh37
NC_000011.8:g.5204582G>A NCBI36
NG_000007.3:g.70840C>T
NG_059281.1:g.5296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.116C>T ENSP00000494175.1:p.Thr39Ile
ENST00000335295.4:c.116C>T MANE Select ENSP00000333994.3:p.Thr39Ile
ENST00000380315.2:c.116C>T ENSP00000369671.2:p.Thr39Ile
ENST00000475226.1:n.48C>T
ENST00000485743.1:n.167C>T
ENST00000633227.1:c.100C>T ENSP00000488004.1:p.Pro34Ser
NM_000518.4:c.116C>T NP_000509.1:p.Thr39Ile
NM_000518.5:c.116C>T MANE Select NP_000509.1:p.Thr39Ile
Search 100 bp 5'
Search 100 bp 3'