Canonical Allele Identifier: CA658683682
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 495975
ClinVar RCV Id: RCV000589253 RCV001078396
dbSNP Id: rs34999973
MyVariant Identifiers: chr11:g.5248391G>C (hg19) chr11:g.5227161G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227161G>C , CM000673.2:g.5227161G>C GRCh38
NC_000011.9:g.5248391G>C , CM000673.1:g.5248391G>C GRCh37
NC_000011.8:g.5204967G>C NCBI36
NG_000007.3:g.70455C>G
NG_059281.1:g.4911C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-140C>G ENSP00000494175.1:n.-140C>G
ENST00000380315.2:c.-18-122C>G ENSP00000369671.2:n.-18-122C>G
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