Canonical Allele Identifier: CA472885738
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1095859
ClinVar RCV Id: RCV001416885
dbSNP Id: rs2133588069
MyVariant Identifiers: chr11:g.5247870G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226640G>T , CM000673.2:g.5226640G>T GRCh38
NC_000011.9:g.5247870G>T , CM000673.1:g.5247870G>T GRCh37
NC_000011.8:g.5204446G>T NCBI36
NG_000007.3:g.70976C>A
NG_059281.1:g.5432C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.252C>A ENSP00000494175.1:p.Gly84=
ENST00000335295.4:c.252C>A MANE Select ENSP00000333994.3:p.Gly84=
ENST00000380315.2:c.252C>A ENSP00000369671.2:p.Gly84=
ENST00000475226.1:n.184C>A
ENST00000485743.1:n.303C>A
ENST00000633227.1:c.*68C>A ENSP00000488004.1:n.*68C>A
NM_000518.4:c.252C>A NP_000509.1:p.Gly84=
NM_000518.5:c.252C>A MANE Select NP_000509.1:p.Gly84=
Search 100 bp 5'
Search 100 bp 3'