Canonical Allele Identifier: CA125196
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15368
dbSNP Id: rs1135071
gnomAD v2: 11-5248029-C-A
gnomAD v3: 11-5226799-C-A
gnomAD v4: 11-5226799-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226799C>A , CM000673.2:g.5226799C>A GRCh38
NC_000011.9:g.5248029C>A , CM000673.1:g.5248029C>A GRCh37
NC_000011.8:g.5204605C>A NCBI36
NG_000007.3:g.70817G>T
NG_059281.1:g.5273G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.93G>T ENSP00000494175.1:p.Arg31Ser
ENST00000335295.4:c.93G>T MANE Select ENSP00000333994.3:p.Arg31Ser
ENST00000380315.2:c.93G>T ENSP00000369671.2:p.Arg31Ser
ENST00000475226.1:n.25G>T
ENST00000485743.1:n.144G>T
ENST00000633227.1:c.77G>T ENSP00000488004.1:p.Gly26Val
NM_000518.4:c.93G>T NP_000509.1:p.Arg31Ser
NM_000518.5:c.93G>T MANE Select NP_000509.1:p.Arg31Ser