Canonical Allele Identifier: CA124836
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15160
ClinVar RCV Id: RCV000016328
dbSNP Id: rs34933455
MyVariant Identifiers: chr11:g.5247935C>G (hg19) chr11:g.5226705C>G (hg38)
PubMed: PMID:4361395
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226705C>G , CM000673.2:g.5226705C>G GRCh38
NC_000011.9:g.5247935C>G , CM000673.1:g.5247935C>G GRCh37
NC_000011.8:g.5204511C>G NCBI36
NG_000007.3:g.70911G>C
NG_059281.1:g.5367G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.187G>C ENSP00000494175.1:p.Ala63Pro
ENST00000335295.4:c.187G>C MANE Select ENSP00000333994.3:p.Ala63Pro
ENST00000380315.2:c.187G>C ENSP00000369671.2:p.Ala63Pro
ENST00000475226.1:n.119G>C
ENST00000485743.1:n.238G>C
ENST00000633227.1:c.*3G>C ENSP00000488004.1:n.*3G>C
NM_000518.4:c.187G>C NP_000509.1:p.Ala63Pro
NM_000518.5:c.187G>C MANE Select NP_000509.1:p.Ala63Pro
Search 100 bp 5'
Search 100 bp 3'