Canonical Allele Identifier: CA213890

Gene: HBB

Linked Data

• ClinVar Variation Id: 15234
• ClinVar RCV Id: RCV000016432 ; RCV000506942 ; RCV001004351 ; RCV001794452 ; RCV003338382
• dbSNP Id: rs33960103
• ExAC: 11:5248160 C / G
• gnomAD v2: 11-5248160-C-G
• gnomAD v3: 11-5226930-C-G
• gnomAD v4: 11-5226930-C-G
• COSMIC: COSM3375834
• MyVariant Identifiers: chr11:g.5248160C>G (hg19) ; chr11:g.5226930C>G (hg38)
• PubMed: PMID:2753736 ; PMID:2915972 ; PMID:9140720 ; PMID:12210807 ; PMID:12488606 ; PMID:15257926 ; PMID:15278762 ; PMID:18056002 ; PMID:18294253 ; PMID:19843386 ; PMID:20437613 ; PMID:21931510 ; PMID:25677748 ; PMID:27263053

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226930C>G , CM000673.2:g.5226930C>G	GRCh38
NC_000011.9:g.5248160C>G , CM000673.1:g.5248160C>G	GRCh37
NC_000011.8:g.5204736C>G	NCBI36
NG_000007.3:g.70686G>C
NG_059281.1:g.5142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.92G>C	ENSP00000494175.1:p.Arg31Thr
ENST00000335295.4:c.92G>C MANE Select	ENSP00000333994.3:p.Arg31Thr
ENST00000380315.2:c.92G>C	ENSP00000369671.2:p.Arg31Thr
ENST00000485743.1:n.143G>C
ENST00000633227.1:c.76+16G>C	ENSP00000488004.1:n.76+16G>C
NM_000518.4:c.92G>C	NP_000509.1:p.Arg31Thr
NM_000518.5:c.92G>C MANE Select	NP_000509.1:p.Arg31Thr