Canonical Allele Identifier: CA124973
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15233
ClinVar RCV Id: RCV000016431 RCV000780329 RCV001284159
dbSNP Id: rs33953406
gnomAD v4: 11-5225645-T-G
MyVariant Identifiers: chr11:g.5246875T>G (hg19) chr11:g.5225645T>G (hg38)
PubMed: PMID:4999133
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225645T>G , CM000673.2:g.5225645T>G GRCh38
NC_000011.9:g.5246875T>G , CM000673.1:g.5246875T>G GRCh37
NC_000011.8:g.5203451T>G NCBI36
NG_000007.3:g.71971A>C
NG_059281.1:g.6427A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.397A>C ENSP00000494175.1:p.Lys133Gln
ENST00000335295.4:c.397A>C MANE Select ENSP00000333994.3:p.Lys133Gln
ENST00000633227.1:c.*213A>C ENSP00000488004.1:n.*213A>C
NM_000518.4:c.397A>C NP_000509.1:p.Lys133Gln
NM_000518.5:c.397A>C MANE Select NP_000509.1:p.Lys133Gln
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