Canonical Allele Identifier: CA125377
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15514
ClinVar RCV Id: RCV000016778 RCV000029954 RCV000202364 RCV001069376 RCV002260510 RCV002288506
dbSNP Id: rs34999973
gnomAD v2: 11-5248391-G-A
gnomAD v3: 11-5227161-G-A
gnomAD v4: 11-5227161-G-A
MyVariant Identifiers: chr11:g.5248391G>A (hg19) chr11:g.5227161G>A (hg38)
PubMed: PMID:1634236 PMID:8874232 PMID:12709369 PMID:14555318 PMID:18076350 PMID:18294253 PMID:18339318 PMID:20301599 PMID:21119755
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227161G>A , CM000673.2:g.5227161G>A GRCh38
NC_000011.9:g.5248391G>A , CM000673.1:g.5248391G>A GRCh37
NC_000011.8:g.5204967G>A NCBI36
NG_000007.3:g.70455C>T
NG_059281.1:g.4911C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-140C>T ENSP00000494175.1:n.-140C>T
ENST00000380315.2:c.-18-122C>T ENSP00000369671.2:n.-18-122C>T
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