Canonical Allele Identifier: CA125147

Gene: HBB

Linked Data

• ClinVar Variation Id: 15342
• ClinVar RCV Id: RCV001553627 ; RCV003476897
• dbSNP Id: rs33969677
• gnomAD v4: 11-5225714-C-T
• MyVariant Identifiers: chr11:g.5246944C>T (hg19) ; chr11:g.5225714C>T (hg38)
• PubMed: PMID:2703368 ; PMID:3957694 ; PMID:4808644 ; PMID:7204093 ; PMID:7615400 ; PMID:18818920 ; PMID:23859443

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225714C>T , CM000673.2:g.5225714C>T	GRCh38
NC_000011.9:g.5246944C>T , CM000673.1:g.5246944C>T	GRCh37
NC_000011.8:g.5203520C>T	NCBI36
NG_000007.3:g.71902G>A
NG_059281.1:g.6358G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.328G>A	ENSP00000494175.1:p.Val110Met
ENST00000335295.4:c.328G>A MANE Select	ENSP00000333994.3:p.Val110Met
ENST00000475226.1:n.260G>A
ENST00000633227.1:c.*144G>A	ENSP00000488004.1:n.*144G>A
NM_000518.4:c.328G>A	NP_000509.1:p.Val110Met
NM_000518.5:c.328G>A MANE Select	NP_000509.1:p.Val110Met