Canonical Allele Identifier: CA217113399
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 619686
dbSNP Id: rs33945777
gnomAD v3: 11-5226576-C-A
gnomAD v4: 11-5226576-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226576C>A , CM000673.2:g.5226576C>A GRCh38
NC_000011.9:g.5247806C>A , CM000673.1:g.5247806C>A GRCh37
NC_000011.8:g.5204382C>A NCBI36
NG_000007.3:g.71040G>T
NG_059281.1:g.5496G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+1G>T ENSP00000494175.1:n.315+1G>T
ENST00000335295.4:c.315+1G>T MANE Select ENSP00000333994.3:n.315+1G>T
ENST00000475226.1:n.247+1G>T
ENST00000485743.1:n.367G>T
ENST00000633227.1:c.*131+1G>T ENSP00000488004.1:n.*131+1G>T
NM_000518.4:c.315+1G>T NP_000509.1:n.315+1G>T
NM_000518.5:c.315+1G>T MANE Select NP_000509.1:n.315+1G>T