Canonical Allele Identifier: CA124916
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15203
ClinVar RCV Id: RCV000016387
dbSNP Id: rs33922842
MyVariant Identifiers: chr11:g.5247992C>G (hg19) chr11:g.5226762C>G (hg38)
PubMed: PMID:701082 PMID:1814859 PMID:6998928
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226762C>G , CM000673.2:g.5226762C>G GRCh38
NC_000011.9:g.5247992C>G , CM000673.1:g.5247992C>G GRCh37
NC_000011.8:g.5204568C>G NCBI36
NG_000007.3:g.70854G>C
NG_059281.1:g.5310G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.130G>C ENSP00000494175.1:p.Glu44Gln
ENST00000335295.4:c.130G>C MANE Select ENSP00000333994.3:p.Glu44Gln
ENST00000380315.2:c.130G>C ENSP00000369671.2:p.Glu44Gln
ENST00000475226.1:n.62G>C
ENST00000485743.1:n.181G>C
ENST00000633227.1:c.114G>C ENSP00000488004.1:p.Leu38Phe
NM_000518.4:c.130G>C NP_000509.1:p.Glu44Gln
NM_000518.5:c.130G>C MANE Select NP_000509.1:p.Glu44Gln
Search 100 bp 5'
Search 100 bp 3'