Canonical Allele Identifier: CA125444
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15558
ClinVar RCV Id: RCV000016824
dbSNP Id: rs33958358
gnomAD v4: 11-5227018-C-A
MyVariant Identifiers: chr11:g.5248248C>A (hg19) chr11:g.5227018C>A (hg38)
PubMed: PMID:9101286
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.4G>T ENSP00000494175.1:p.Val2Leu
ENST00000335295.4:c.4G>T MANE Select ENSP00000333994.3:p.Val2Leu
ENST00000380315.2:c.4G>T ENSP00000369671.2:p.Val2Leu
ENST00000485743.1:n.55G>T
ENST00000633227.1:c.4G>T ENSP00000488004.1:p.Val2Leu
NM_000518.4:c.4G>T NP_000509.1:p.Val2Leu
NM_000518.5:c.4G>T MANE Select NP_000509.1:p.Val2Leu
Search 100 bp 5'
Search 100 bp 3'