Canonical Allele Identifier: CA2499221014
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1112986
ClinVar RCV Id: RCV001440183
dbSNP Id: rs2133586776
gnomAD v3: 11-5225955-T-C
gnomAD v4: 11-5225955-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225955T>C , CM000673.2:g.5225955T>C GRCh38
NC_000011.9:g.5247185T>C , CM000673.1:g.5247185T>C GRCh37
NC_000011.8:g.5203761T>C NCBI36
NG_000007.3:g.71661A>G
NG_059281.1:g.6117A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-229A>G ENSP00000494175.1:n.316-229A>G
ENST00000335295.4:c.316-229A>G MANE Select ENSP00000333994.3:n.316-229A>G
ENST00000475226.1:n.248-229A>G
ENST00000633227.1:c.*132-229A>G ENSP00000488004.1:n.*132-229A>G
NM_000518.4:c.316-229A>G NP_000509.1:n.316-229A>G
NM_000518.5:c.316-229A>G MANE Select NP_000509.1:n.316-229A>G
Search 100 bp 5'
Search 100 bp 3'