Canonical Allele Identifier: CA125151
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15344
ClinVar RCV Id: RCV000016587
dbSNP Id: rs33968721
MyVariant Identifiers: chr11:g.5248178C>A (hg19) chr11:g.5226948C>A (hg38)
PubMed: PMID:5545125
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226948C>A , CM000673.2:g.5226948C>A GRCh38
NC_000011.9:g.5248178C>A , CM000673.1:g.5248178C>A GRCh37
NC_000011.8:g.5204754C>A NCBI36
NG_000007.3:g.70668G>T
NG_059281.1:g.5124G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.74G>T ENSP00000494175.1:p.Gly25Val
ENST00000335295.4:c.74G>T MANE Select ENSP00000333994.3:p.Gly25Val
ENST00000380315.2:c.74G>T ENSP00000369671.2:p.Gly25Val
ENST00000485743.1:n.125G>T
ENST00000633227.1:c.74G>T ENSP00000488004.1:p.Gly25Val
NM_000518.4:c.74G>T NP_000509.1:p.Gly25Val
NM_000518.5:c.74G>T MANE Select NP_000509.1:p.Gly25Val
Search 100 bp 5'
Search 100 bp 3'