Canonical Allele Identifier: CA125314
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15451
ClinVar RCV Id: RCV000016709 RCV000029987 RCV000506607 RCV000984183 RCV002496382 RCV004528115
dbSNP Id: rs33913413
ExAC: 11:5246959 G / T
gnomAD v2: 11-5246959-G-T
gnomAD v3: 11-5225729-G-T
gnomAD v4: 11-5225729-G-T
MyVariant Identifiers: chr11:g.5246959G>T (hg19) chr11:g.5225729G>T (hg38)
PubMed: PMID:2458145 PMID:2920213 PMID:9140720 PMID:20704537 PMID:25087612 PMID:25617386 PMID:27756326 PMID:28276871
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225729G>T , CM000673.2:g.5225729G>T GRCh38
NC_000011.9:g.5246959G>T , CM000673.1:g.5246959G>T GRCh37
NC_000011.8:g.5203535G>T NCBI36
NG_000007.3:g.71887C>A
NG_059281.1:g.6343C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-3C>A ENSP00000494175.1:n.316-3C>A
ENST00000335295.4:c.316-3C>A MANE Select ENSP00000333994.3:n.316-3C>A
ENST00000475226.1:n.248-3C>A
ENST00000633227.1:c.*132-3C>A ENSP00000488004.1:n.*132-3C>A
NM_000518.4:c.316-3C>A NP_000509.1:n.316-3C>A
NM_000518.5:c.316-3C>A MANE Select NP_000509.1:n.316-3C>A
Search 100 bp 5'
Search 100 bp 3'