Canonical Allele Identifier: CA645509066
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 439133
ClinVar RCV Id: RCV000590613
dbSNP Id: rs1272414751
MyVariant Identifiers: chr11:g.5248373A>C (hg19) chr11:g.5227143A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227143A>C , CM000673.2:g.5227143A>C GRCh38
NC_000011.9:g.5248373A>C , CM000673.1:g.5248373A>C GRCh37
NC_000011.8:g.5204949A>C NCBI36
NG_000007.3:g.70473T>G
NG_059281.1:g.4929T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-122T>G ENSP00000494175.1:n.-122T>G
ENST00000380315.2:c.-18-104T>G ENSP00000369671.2:n.-18-104T>G
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