Canonical Allele Identifier: CA125056
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15285
ClinVar RCV Id: RCV000016515 RCV001811160
dbSNP Id: rs33965000
MyVariant Identifiers: chr11:g.5247820G>C (hg19) chr11:g.5226590G>C (hg38)
PubMed: PMID:19257
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226590G>C , CM000673.2:g.5226590G>C GRCh38
NC_000011.9:g.5247820G>C , CM000673.1:g.5247820G>C GRCh37
NC_000011.8:g.5204396G>C NCBI36
NG_000007.3:g.71026C>G
NG_059281.1:g.5482C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.302C>G ENSP00000494175.1:p.Pro101Arg
ENST00000335295.4:c.302C>G MANE Select ENSP00000333994.3:p.Pro101Arg
ENST00000475226.1:n.234C>G
ENST00000485743.1:n.353C>G
ENST00000633227.1:c.*118C>G ENSP00000488004.1:n.*118C>G
NM_000518.4:c.302C>G NP_000509.1:p.Pro101Arg
NM_000518.5:c.302C>G MANE Select NP_000509.1:p.Pro101Arg
Search 100 bp 5'
Search 100 bp 3'