Canonical Allele Identifier: CA124732
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15102
ClinVar RCV Id: RCV000016256
dbSNP Id: rs33918778
COSMIC: COSM4788981
MyVariant Identifiers: chr11:g.5247999C>G (hg19) chr11:g.5226769C>G (hg38)
PubMed: PMID:1634360
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226769C>G , CM000673.2:g.5226769C>G GRCh38
NC_000011.9:g.5247999C>G , CM000673.1:g.5247999C>G GRCh37
NC_000011.8:g.5204575C>G NCBI36
NG_000007.3:g.70847G>C
NG_059281.1:g.5303G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.123G>C ENSP00000494175.1:p.Arg41Ser
ENST00000335295.4:c.123G>C MANE Select ENSP00000333994.3:p.Arg41Ser
ENST00000380315.2:c.123G>C ENSP00000369671.2:p.Arg41Ser
ENST00000475226.1:n.55G>C
ENST00000485743.1:n.174G>C
ENST00000633227.1:c.107G>C ENSP00000488004.1:p.Gly36Ala
NM_000518.4:c.123G>C NP_000509.1:p.Arg41Ser
NM_000518.5:c.123G>C MANE Select NP_000509.1:p.Arg41Ser
Search 100 bp 5'
Search 100 bp 3'