Canonical Allele Identifier: CA124977
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15236
ClinVar RCV Id: RCV000016436 RCV000641495
dbSNP Id: rs33954595
MyVariant Identifiers: chr11:g.5247824C>T (hg19) chr11:g.5226594C>T (hg38)
PubMed: PMID:5651043
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226594C>T , CM000673.2:g.5226594C>T GRCh38
NC_000011.9:g.5247824C>T , CM000673.1:g.5247824C>T GRCh37
NC_000011.8:g.5204400C>T NCBI36
NG_000007.3:g.71022G>A
NG_059281.1:g.5478G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.298G>A ENSP00000494175.1:p.Asp100Asn
ENST00000335295.4:c.298G>A MANE Select ENSP00000333994.3:p.Asp100Asn
ENST00000475226.1:n.230G>A
ENST00000485743.1:n.349G>A
ENST00000633227.1:c.*114G>A ENSP00000488004.1:n.*114G>A
NM_000518.4:c.298G>A NP_000509.1:p.Asp100Asn
NM_000518.5:c.298G>A MANE Select NP_000509.1:p.Asp100Asn
Search 100 bp 5'
Search 100 bp 3'