Canonical Allele Identifier: CA125496

Gene: HBB

Linked Data

• ClinVar Variation Id: 15588
• ClinVar RCV Id: RCV000016855 ; RCV000588829 ; RCV000855596 ; RCV001835629
• dbSNP Id: rs33966761
• ExAC: 11:5246868 A / G
• gnomAD v2: 11-5246868-A-G
• gnomAD v3: 11-5225638-A-G
• gnomAD v4: 11-5225638-A-G
• MyVariant Identifiers: chr11:g.5246868A>G (hg19) ; chr11:g.5225638A>G (hg38)
• PubMed: PMID:891976 ; PMID:11300355 ; PMID:11523095 ; PMID:15065210 ; PMID:15481891 ; PMID:17932132 ; PMID:19429541 ; PMID:21353607 ; PMID:25113778 ; PMID:26635043

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225638A>G , CM000673.2:g.5225638A>G	GRCh38
NC_000011.9:g.5246868A>G , CM000673.1:g.5246868A>G	GRCh37
NC_000011.8:g.5203444A>G	NCBI36
NG_000007.3:g.71978T>C
NG_059281.1:g.6434T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.404T>C	ENSP00000494175.1:p.Val135Ala
ENST00000335295.4:c.404T>C MANE Select	ENSP00000333994.3:p.Val135Ala
ENST00000633227.1:c.*220T>C	ENSP00000488004.1:n.*220T>C
NM_000518.4:c.404T>C	NP_000509.1:p.Val135Ala
NM_000518.5:c.404T>C MANE Select	NP_000509.1:p.Val135Ala