Canonical Allele Identifier: CA5839752
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs770878031
ExAC: 11:5247933 A / G
gnomAD v2: 11-5247933-A-G
gnomAD v4: 11-5226703-A-G
COSMIC: COSM1253980
MyVariant Identifiers: chr11:g.5247933A>G (hg19) chr11:g.5226703A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226703A>G , CM000673.2:g.5226703A>G GRCh38
NC_000011.9:g.5247933A>G , CM000673.1:g.5247933A>G GRCh37
NC_000011.8:g.5204509A>G NCBI36
NG_000007.3:g.70913T>C
NG_059281.1:g.5369T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.189T>C ENSP00000494175.1:p.Ala63=
ENST00000335295.4:c.189T>C MANE Select ENSP00000333994.3:p.Ala63=
ENST00000380315.2:c.189T>C ENSP00000369671.2:p.Ala63=
ENST00000475226.1:n.121T>C
ENST00000485743.1:n.240T>C
ENST00000633227.1:c.*5T>C ENSP00000488004.1:n.*5T>C
NM_000518.4:c.189T>C NP_000509.1:p.Ala63=
NM_000518.5:c.189T>C MANE Select NP_000509.1:p.Ala63=
Search 100 bp 5'
Search 100 bp 3'