Canonical Allele Identifier: CA124941
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15216
ClinVar RCV Id: RCV000016410 RCV000016412 RCV000016411
dbSNP Id: rs33922018
gnomAD v4: 11-5226698-C-T
MyVariant Identifiers: chr11:g.5247928C>T (hg19) chr11:g.5226698C>T (hg38)
PubMed: PMID:500375 PMID:5031790
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226698C>T , CM000673.2:g.5226698C>T GRCh38
NC_000011.9:g.5247928C>T , CM000673.1:g.5247928C>T GRCh37
NC_000011.8:g.5204504C>T NCBI36
NG_000007.3:g.70918G>A
NG_059281.1:g.5374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.194G>A ENSP00000494175.1:p.Gly65Asp
ENST00000335295.4:c.194G>A MANE Select ENSP00000333994.3:p.Gly65Asp
ENST00000380315.2:c.194G>A ENSP00000369671.2:p.Gly65Asp
ENST00000475226.1:n.126G>A
ENST00000485743.1:n.245G>A
ENST00000633227.1:c.*10G>A ENSP00000488004.1:n.*10G>A
NM_000518.4:c.194G>A NP_000509.1:p.Gly65Asp
NM_000518.5:c.194G>A MANE Select NP_000509.1:p.Gly65Asp
Search 100 bp 5'
Search 100 bp 3'