Canonical Allele Identifier: CA124772
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15122
ClinVar RCV Id: RCV000016279 RCV003114195
dbSNP Id: rs35693898
MyVariant Identifiers: chr11:g.5247865A>G (hg19) chr11:g.5226635A>G (hg38)
PubMed: PMID:6038175 PMID:14197371
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226635A>G , CM000673.2:g.5226635A>G GRCh38
NC_000011.9:g.5247865A>G , CM000673.1:g.5247865A>G GRCh37
NC_000011.8:g.5204441A>G NCBI36
NG_000007.3:g.70981T>C
NG_059281.1:g.5437T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.257T>C ENSP00000494175.1:p.Phe86Ser
ENST00000335295.4:c.257T>C MANE Select ENSP00000333994.3:p.Phe86Ser
ENST00000380315.2:c.257T>C ENSP00000369671.2:p.Phe86Ser
ENST00000475226.1:n.189T>C
ENST00000485743.1:n.308T>C
ENST00000633227.1:c.*73T>C ENSP00000488004.1:n.*73T>C
NM_000518.4:c.257T>C NP_000509.1:p.Phe86Ser
NM_000518.5:c.257T>C MANE Select NP_000509.1:p.Phe86Ser
Search 100 bp 5'
Search 100 bp 3'