Canonical Allele Identifier: CA125414
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15537
ClinVar RCV Id: RCV000016802 RCV001078371
dbSNP Id: rs33910569
MyVariant Identifiers: chr11:g.5246889T>C (hg19) chr11:g.5225659T>C (hg38)
PubMed: PMID:1420507
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225659T>C , CM000673.2:g.5225659T>C GRCh38
NC_000011.9:g.5246889T>C , CM000673.1:g.5246889T>C GRCh37
NC_000011.8:g.5203465T>C NCBI36
NG_000007.3:g.71957A>G
NG_059281.1:g.6413A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.383A>G ENSP00000494175.1:p.Gln128Arg
ENST00000335295.4:c.383A>G MANE Select ENSP00000333994.3:p.Gln128Arg
ENST00000475226.1:n.315A>G
ENST00000633227.1:c.*199A>G ENSP00000488004.1:n.*199A>G
NM_000518.4:c.383A>G NP_000509.1:p.Gln128Arg
NM_000518.5:c.383A>G MANE Select NP_000509.1:p.Gln128Arg
Search 100 bp 5'
Search 100 bp 3'