Canonical Allele Identifier: CA125110

Gene: HBB

Linked Data

• ClinVar Variation Id: 15316
• ClinVar RCV Id: RCV000016556 ; RCV000508345 ; RCV000985743
• dbSNP Id: rs33918131
• ExAC: 11:5248223 G / C
• gnomAD v2: 11-5248223-G-C
• gnomAD v4: 11-5226993-G-C
• MyVariant Identifiers: chr11:g.5248223G>C (hg19) ; chr11:g.5226993G>C (hg38)
• PubMed: PMID:1052181 ; PMID:4756855 ; PMID:6048124 ; PMID:10805790 ; PMID:13985474

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226993G>C , CM000673.2:g.5226993G>C	GRCh38
NC_000011.9:g.5248223G>C , CM000673.1:g.5248223G>C	GRCh37
NC_000011.8:g.5204799G>C	NCBI36
NG_000007.3:g.70623C>G
NG_059281.1:g.5079C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.29C>G	ENSP00000494175.1:p.Ser10Cys
ENST00000335295.4:c.29C>G MANE Select	ENSP00000333994.3:p.Ser10Cys
ENST00000380315.2:c.29C>G	ENSP00000369671.2:p.Ser10Cys
ENST00000485743.1:n.80C>G
ENST00000633227.1:c.29C>G	ENSP00000488004.1:p.Ser10Cys
NM_000518.4:c.29C>G	NP_000509.1:p.Ser10Cys
NM_000518.5:c.29C>G MANE Select	NP_000509.1:p.Ser10Cys