Canonical Allele Identifier: CA125317
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15458
ClinVar RCV Id: RCV000016716 RCV000020334 RCV000029984 RCV000794203 RCV001004565
dbSNP Id: rs34451549
gnomAD v3: 11-5225923-G-A
gnomAD v4: 11-5225923-G-A
MyVariant Identifiers: chr11:g.5247153G>A (hg19) chr11:g.5225923G>A (hg38)
PubMed: PMID:2014803 PMID:2875755 PMID:6585381 PMID:6585831 PMID:8330981 PMID:8435318 PMID:20301599 PMID:23383304
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225923G>A , CM000673.2:g.5225923G>A GRCh38
NC_000011.9:g.5247153G>A , CM000673.1:g.5247153G>A GRCh37
NC_000011.8:g.5203729G>A NCBI36
NG_000007.3:g.71693C>T
NG_059281.1:g.6149C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.316-197C>T ENSP00000494175.1:n.316-197C>T
ENST00000335295.4:c.316-197C>T MANE Select ENSP00000333994.3:n.316-197C>T
ENST00000475226.1:n.248-197C>T
ENST00000633227.1:c.*132-197C>T ENSP00000488004.1:n.*132-197C>T
NM_000518.4:c.316-197C>T NP_000509.1:n.316-197C>T
NM_000518.5:c.316-197C>T MANE Select NP_000509.1:n.316-197C>T
Search 100 bp 5'
Search 100 bp 3'