Canonical Allele Identifier: CA124902
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15196
ClinVar RCV Id: RCV000016379
dbSNP Id: rs34446260
gnomAD v4: 11-5226706-C-G
MyVariant Identifiers: chr11:g.5247936C>G (hg19) chr11:g.5226706C>G (hg38)
PubMed: PMID:13911808
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226706C>G , CM000673.2:g.5226706C>G GRCh38
NC_000011.9:g.5247936C>G , CM000673.1:g.5247936C>G GRCh37
NC_000011.8:g.5204512C>G NCBI36
NG_000007.3:g.70910G>C
NG_059281.1:g.5366G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.186G>C ENSP00000494175.1:p.Lys62Asn
ENST00000335295.4:c.186G>C MANE Select ENSP00000333994.3:p.Lys62Asn
ENST00000380315.2:c.186G>C ENSP00000369671.2:p.Lys62Asn
ENST00000475226.1:n.118G>C
ENST00000485743.1:n.237G>C
ENST00000633227.1:c.*2G>C ENSP00000488004.1:n.*2G>C
NM_000518.4:c.186G>C NP_000509.1:p.Lys62Asn
NM_000518.5:c.186G>C MANE Select NP_000509.1:p.Lys62Asn
Search 100 bp 5'
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