Canonical Allele Identifier: CA124914
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15202
dbSNP Id: rs33949486
gnomAD v2: 11-5246862-C-T
gnomAD v3: 11-5225632-C-T
gnomAD v4: 11-5225632-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225632C>T , CM000673.2:g.5225632C>T GRCh38
NC_000011.9:g.5246862C>T , CM000673.1:g.5246862C>T GRCh37
NC_000011.8:g.5203438C>T NCBI36
NG_000007.3:g.71984G>A
NG_059281.1:g.6440G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.410G>A ENSP00000494175.1:p.Gly137Asp
ENST00000335295.4:c.410G>A MANE Select ENSP00000333994.3:p.Gly137Asp
ENST00000633227.1:c.*226G>A ENSP00000488004.1:n.*226G>A
NM_000518.4:c.410G>A NP_000509.1:p.Gly137Asp
NM_000518.5:c.410G>A MANE Select NP_000509.1:p.Gly137Asp