Canonical Allele Identifier: CA125312
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15449
ClinVar RCV Id: RCV001216321
dbSNP Id: rs33915217
gnomAD v2: 11-5248155-C-T
gnomAD v4: 11-5226925-C-T
MyVariant Identifiers: chr11:g.5248155C>T (hg19) chr11:g.5226925C>T (hg38)
PubMed: PMID:1917531 PMID:2200760 PMID:3021139 PMID:3671081 PMID:10815781 PMID:15315794 PMID:22975760 PMID:23590658
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226925C>T , CM000673.2:g.5226925C>T GRCh38
NC_000011.9:g.5248155C>T , CM000673.1:g.5248155C>T GRCh37
NC_000011.8:g.5204731C>T NCBI36
NG_000007.3:g.70691G>A
NG_059281.1:g.5147G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+5G>A ENSP00000494175.1:n.92+5G>A
ENST00000335295.4:c.92+5G>A MANE Select ENSP00000333994.3:n.92+5G>A
ENST00000380315.2:c.92+5G>A ENSP00000369671.2:n.92+5G>A
ENST00000485743.1:n.143+5G>A
ENST00000633227.1:c.76+21G>A ENSP00000488004.1:n.76+21G>A
NM_000518.4:c.92+5G>A NP_000509.1:n.92+5G>A
NM_000518.5:c.92+5G>A MANE Select NP_000509.1:n.92+5G>A
Search 100 bp 5'
Search 100 bp 3'