Canonical Allele Identifier: CA125340
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15483
dbSNP Id: rs33925391
gnomAD v4: 11-5225662-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225662A>C , CM000673.2:g.5225662A>C GRCh38
NC_000011.9:g.5246892A>C , CM000673.1:g.5246892A>C GRCh37
NC_000011.8:g.5203468A>C NCBI36
NG_000007.3:g.71954T>G
NG_059281.1:g.6410T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.380T>G ENSP00000494175.1:p.Val127Gly
ENST00000335295.4:c.380T>G MANE Select ENSP00000333994.3:p.Val127Gly
ENST00000475226.1:n.312T>G
ENST00000633227.1:c.*196T>G ENSP00000488004.1:n.*196T>G
NM_000518.4:c.380T>G NP_000509.1:p.Val127Gly
NM_000518.5:c.380T>G MANE Select NP_000509.1:p.Val127Gly