Canonical Allele Identifier: CA125347
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15488
dbSNP Id: rs63751128
gnomAD v3: 11-5225487-T-C
gnomAD v4: 11-5225487-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225487T>C , CM000673.2:g.5225487T>C GRCh38
NC_000011.9:g.5246717T>C , CM000673.1:g.5246717T>C GRCh37
NC_000011.8:g.5203293T>C NCBI36
NG_000007.3:g.72129A>G
NG_059281.1:g.6585A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*111A>G ENSP00000494175.1:n.*111A>G
ENST00000335295.4:c.*111A>G MANE Select ENSP00000333994.3:n.*111A>G
ENST00000633227.1:c.*371A>G ENSP00000488004.1:n.*371A>G
NM_000518.4:c.*111A>G NP_000509.1:n.*111A>G
NM_000518.5:c.*111A>G MANE Select NP_000509.1:n.*111A>G