Canonical Allele Identifier: CA124888

Gene: HBB

Linked Data

• ClinVar Variation Id: 15189
• ClinVar RCV Id: RCV000016370 ; RCV000756241 ; RCV001104053 ; RCV001107684 ; RCV001107685 ; RCV001107686 ; RCV001778655 ; RCV002482873
• dbSNP Id: rs33974228
• ExAC: 11:5248218 C / T
• gnomAD v2: 11-5248218-C-T
• gnomAD v3: 11-5226988-C-T
• gnomAD v4: 11-5226988-C-T
• MyVariant Identifiers: chr11:g.5248218C>T (hg19) ; chr11:g.5226988C>T (hg38)
• PubMed: PMID:1428944 ; PMID:1610915 ; PMID:3623977 ; PMID:6695908 ; PMID:19429541 ; PMID:19727720

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226988C>T , CM000673.2:g.5226988C>T	GRCh38
NC_000011.9:g.5248218C>T , CM000673.1:g.5248218C>T	GRCh37
NC_000011.8:g.5204794C>T	NCBI36
NG_000007.3:g.70628G>A
NG_059281.1:g.5084G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.34G>A	ENSP00000494175.1:p.Val12Ile
ENST00000335295.4:c.34G>A MANE Select	ENSP00000333994.3:p.Val12Ile
ENST00000380315.2:c.34G>A	ENSP00000369671.2:p.Val12Ile
ENST00000485743.1:n.85G>A
ENST00000633227.1:c.34G>A	ENSP00000488004.1:p.Val12Ile
NM_000518.4:c.34G>A	NP_000509.1:p.Val12Ile
NM_000518.5:c.34G>A MANE Select	NP_000509.1:p.Val12Ile