Canonical Allele Identifier: CA125348

Gene: HBB

Linked Data

• ClinVar Variation Id: 15489
• ClinVar RCV Id: RCV000016749 ; RCV000029973 ; RCV000508492 ; RCV002504798
• dbSNP Id: rs35553496
• ExAC: 11:5247860 T / G
• gnomAD v2: 11-5247860-T-G
• gnomAD v3: 11-5226630-T-G
• gnomAD v4: 11-5226630-T-G
• MyVariant Identifiers: chr11:g.5247860T>G (hg19) ; chr11:g.5226630T>G (hg38)
• PubMed: PMID:1709134

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226630T>G , CM000673.2:g.5226630T>G	GRCh38
NC_000011.9:g.5247860T>G , CM000673.1:g.5247860T>G	GRCh37
NC_000011.8:g.5204436T>G	NCBI36
NG_000007.3:g.70986A>C
NG_059281.1:g.5442A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.262A>C	ENSP00000494175.1:p.Thr88Pro
ENST00000335295.4:c.262A>C MANE Select	ENSP00000333994.3:p.Thr88Pro
ENST00000380315.2:c.262A>C	ENSP00000369671.2:p.Thr88Pro
ENST00000475226.1:n.194A>C
ENST00000485743.1:n.313A>C
ENST00000633227.1:c.*78A>C	ENSP00000488004.1:n.*78A>C
NM_000518.4:c.262A>C	NP_000509.1:p.Thr88Pro
NM_000518.5:c.262A>C MANE Select	NP_000509.1:p.Thr88Pro