Canonical Allele Identifier: CA125401
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15529
ClinVar RCV Id: RCV000016794
dbSNP Id: rs33994623
MyVariant Identifiers: chr11:g.5248010A>C (hg19) chr11:g.5226780A>C (hg38)
PubMed: PMID:8144352
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226780A>C , CM000673.2:g.5226780A>C GRCh38
NC_000011.9:g.5248010A>C , CM000673.1:g.5248010A>C GRCh37
NC_000011.8:g.5204586A>C NCBI36
NG_000007.3:g.70836T>G
NG_059281.1:g.5292T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.112T>G ENSP00000494175.1:p.Trp38Gly
ENST00000335295.4:c.112T>G MANE Select ENSP00000333994.3:p.Trp38Gly
ENST00000380315.2:c.112T>G ENSP00000369671.2:p.Trp38Gly
ENST00000475226.1:n.44T>G
ENST00000485743.1:n.163T>G
ENST00000633227.1:c.96T>G ENSP00000488004.1:p.Leu32=
NM_000518.4:c.112T>G NP_000509.1:p.Trp38Gly
NM_000518.5:c.112T>G MANE Select NP_000509.1:p.Trp38Gly
Search 100 bp 5'
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