Canonical Allele Identifier: CA125243
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15394
ClinVar RCV Id: RCV000016647
dbSNP Id: rs33920173
MyVariant Identifiers: chr11:g.5248027A>G (hg19) chr11:g.5226797A>G (hg38)
PubMed: PMID:1814859 PMID:7338469
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226797A>G , CM000673.2:g.5226797A>G GRCh38
NC_000011.9:g.5248027A>G , CM000673.1:g.5248027A>G GRCh37
NC_000011.8:g.5204603A>G NCBI36
NG_000007.3:g.70819T>C
NG_059281.1:g.5275T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.95T>C ENSP00000494175.1:p.Leu32Pro
ENST00000335295.4:c.95T>C MANE Select ENSP00000333994.3:p.Leu32Pro
ENST00000380315.2:c.95T>C ENSP00000369671.2:p.Leu32Pro
ENST00000475226.1:n.27T>C
ENST00000485743.1:n.146T>C
ENST00000633227.1:c.79T>C ENSP00000488004.1:p.Cys27Arg
NM_000518.4:c.95T>C NP_000509.1:p.Leu32Pro
NM_000518.5:c.95T>C MANE Select NP_000509.1:p.Leu32Pro
Search 100 bp 5'
Search 100 bp 3'