Canonical Allele Identifier: CA125092
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15306
dbSNP Id: rs33929459
gnomAD v2: 11-5248182-C-A
gnomAD v4: 11-5226952-C-A
COSMIC: COSM380087

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226952C>A , CM000673.2:g.5226952C>A GRCh38
NC_000011.9:g.5248182C>A , CM000673.1:g.5248182C>A GRCh37
NC_000011.8:g.5204758C>A NCBI36
NG_000007.3:g.70664G>T
NG_059281.1:g.5120G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.70G>T ENSP00000494175.1:p.Val24Phe
ENST00000335295.4:c.70G>T MANE Select ENSP00000333994.3:p.Val24Phe
ENST00000380315.2:c.70G>T ENSP00000369671.2:p.Val24Phe
ENST00000485743.1:n.121G>T
ENST00000633227.1:c.70G>T ENSP00000488004.1:p.Val24Phe
NM_000518.4:c.70G>T NP_000509.1:p.Val24Phe
NM_000518.5:c.70G>T MANE Select NP_000509.1:p.Val24Phe