Canonical Allele Identifier: CA125180
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15359
ClinVar RCV Id: RCV000016609 RCV000508674 RCV001831572
dbSNP Id: rs33958358
gnomAD v2: 11-5248248-C-T
gnomAD v4: 11-5227018-C-T
MyVariant Identifiers: chr11:g.5248248C>T (hg19) chr11:g.5227018C>T (hg38)
PubMed: PMID:3130858 PMID:3758492 PMID:3866233 PMID:6271242 PMID:17008283 PMID:19429541 PMID:26635043
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227018C>T , CM000673.2:g.5227018C>T GRCh38
NC_000011.9:g.5248248C>T , CM000673.1:g.5248248C>T GRCh37
NC_000011.8:g.5204824C>T NCBI36
NG_000007.3:g.70598G>A
NG_059281.1:g.5054G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.4G>A ENSP00000494175.1:p.Val2Met
ENST00000335295.4:c.4G>A MANE Select ENSP00000333994.3:p.Val2Met
ENST00000380315.2:c.4G>A ENSP00000369671.2:p.Val2Met
ENST00000485743.1:n.55G>A
ENST00000633227.1:c.4G>A ENSP00000488004.1:p.Val2Met
NM_000518.4:c.4G>A NP_000509.1:p.Val2Met
NM_000518.5:c.4G>A MANE Select NP_000509.1:p.Val2Met
Search 100 bp 5'
Search 100 bp 3'