Canonical Allele Identifier: CA125070
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15292
dbSNP Id: rs33946267
gnomAD v2: 11-5246908-C-T
gnomAD v3: 11-5225678-C-T
gnomAD v4: 11-5225678-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225678C>T , CM000673.2:g.5225678C>T GRCh38
NC_000011.9:g.5246908C>T , CM000673.1:g.5246908C>T GRCh37
NC_000011.8:g.5203484C>T NCBI36
NG_000007.3:g.71938G>A
NG_059281.1:g.6394G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.364G>A ENSP00000494175.1:p.Glu122Lys
ENST00000335295.4:c.364G>A MANE Select ENSP00000333994.3:p.Glu122Lys
ENST00000475226.1:n.296G>A
ENST00000633227.1:c.*180G>A ENSP00000488004.1:n.*180G>A
NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys
NM_000518.5:c.364G>A MANE Select NP_000509.1:p.Glu122Lys