Canonical Allele Identifier: CA125379
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15517
ClinVar RCV Id: RCV000016781
dbSNP Id: rs35802118
MyVariant Identifiers: chr11:g.5248197C>T (hg19) chr11:g.5226967C>T (hg38)
PubMed: PMID:1463768
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226967C>T , CM000673.2:g.5226967C>T GRCh38
NC_000011.9:g.5248197C>T , CM000673.1:g.5248197C>T GRCh37
NC_000011.8:g.5204773C>T NCBI36
NG_000007.3:g.70649G>A
NG_059281.1:g.5105G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.55G>A ENSP00000494175.1:p.Val19Met
ENST00000335295.4:c.55G>A MANE Select ENSP00000333994.3:p.Val19Met
ENST00000380315.2:c.55G>A ENSP00000369671.2:p.Val19Met
ENST00000485743.1:n.106G>A
ENST00000633227.1:c.55G>A ENSP00000488004.1:p.Val19Met
NM_000518.4:c.55G>A NP_000509.1:p.Val19Met
NM_000518.5:c.55G>A MANE Select NP_000509.1:p.Val19Met
Search 100 bp 5'
Search 100 bp 3'