Canonical Allele Identifier: CA124812
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15146
dbSNP Id: rs35939430
gnomAD v2: 11-5246884-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225654C>G , CM000673.2:g.5225654C>G GRCh38
NC_000011.9:g.5246884C>G , CM000673.1:g.5246884C>G GRCh37
NC_000011.8:g.5203460C>G NCBI36
NG_000007.3:g.71962G>C
NG_059281.1:g.6418G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.388G>C ENSP00000494175.1:p.Ala130Pro
ENST00000335295.4:c.388G>C MANE Select ENSP00000333994.3:p.Ala130Pro
ENST00000633227.1:c.*204G>C ENSP00000488004.1:n.*204G>C
NM_000518.4:c.388G>C NP_000509.1:p.Ala130Pro
NM_000518.5:c.388G>C MANE Select NP_000509.1:p.Ala130Pro