Canonical Allele Identifier: CA217115748
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869286
ClinVar RCV Id: RCV001078338
dbSNP Id: rs281864525
MyVariant Identifiers: chr11:g.5248327T>G (hg19) chr11:g.5227097T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227097T>G , CM000673.2:g.5227097T>G GRCh38
NC_000011.9:g.5248327T>G , CM000673.1:g.5248327T>G GRCh37
NC_000011.8:g.5204903T>G NCBI36
NG_000007.3:g.70519A>C
NG_059281.1:g.4975A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-76A>C ENSP00000494175.1:n.-76A>C
ENST00000380315.2:c.-18-58A>C ENSP00000369671.2:n.-18-58A>C
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