Canonical Allele Identifier: CA037352

Gene: HBB

Linked Data

• ClinVar Variation Id: 242712
• ClinVar RCV Id: RCV000588047
• dbSNP Id: rs33947020
• ExAC: 11:5246913 C / T
• gnomAD v2: 11-5246913-C-T
• gnomAD v4: 11-5225683-C-T
• MyVariant Identifiers: chr11:g.5246913C>T (hg19) ; chr11:g.5225683C>T (hg38)
• PubMed: PMID:11829 ; PMID:6859036 ; PMID:7852084 ; PMID:19429541 ; PMID:19958195 ; PMID:20184100 ; PMID:24802353

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225683C>T , CM000673.2:g.5225683C>T	GRCh38
NC_000011.9:g.5246913C>T , CM000673.1:g.5246913C>T	GRCh37
NC_000011.8:g.5203489C>T	NCBI36
NG_000007.3:g.71933G>A
NG_059281.1:g.6389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.359G>A	ENSP00000494175.1:p.Gly120Asp
ENST00000335295.4:c.359G>A MANE Select	ENSP00000333994.3:p.Gly120Asp
ENST00000475226.1:n.291G>A
ENST00000633227.1:c.*175G>A	ENSP00000488004.1:n.*175G>A
NM_000518.4:c.359G>A	NP_000509.1:p.Gly120Asp
NM_000518.5:c.359G>A MANE Select	NP_000509.1:p.Gly120Asp