Canonical Allele Identifier: CA124748

Gene: HBB

Linked Data

• ClinVar Variation Id: 15110
• ClinVar RCV Id: RCV000016264 ; RCV000016265
• dbSNP Id: rs33987957
• ExAC: 11:5246907 T / A
• gnomAD v4: 11-5225677-T-A
• MyVariant Identifiers: chr11:g.5246907T>A (hg19) ; chr11:g.5225677T>A (hg38)
• PubMed: PMID:809962 ; PMID:1138922 ; PMID:7717379

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225677T>A , CM000673.2:g.5225677T>A	GRCh38
NC_000011.9:g.5246907T>A , CM000673.1:g.5246907T>A	GRCh37
NC_000011.8:g.5203483T>A	NCBI36
NG_000007.3:g.71939A>T
NG_059281.1:g.6395A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.365A>T	ENSP00000494175.1:p.Glu122Val
ENST00000335295.4:c.365A>T MANE Select	ENSP00000333994.3:p.Glu122Val
ENST00000475226.1:n.297A>T
ENST00000633227.1:c.*181A>T	ENSP00000488004.1:n.*181A>T
NM_000518.4:c.365A>T	NP_000509.1:p.Glu122Val
NM_000518.5:c.365A>T MANE Select	NP_000509.1:p.Glu122Val