Canonical Allele Identifier: CA125120
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15322
dbSNP Id: rs35117167

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225605T>C , CM000673.2:g.5225605T>C GRCh38
NC_000011.9:g.5246835T>C , CM000673.1:g.5246835T>C GRCh37
NC_000011.8:g.5203411T>C NCBI36
NG_000007.3:g.72011A>G
NG_059281.1:g.6467A>G

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.437A>G VV NP_000509.1:p.Tyr146Cys
NM_000518.5:c.437A>G VV MANE Preferred NP_000509.1:p.Tyr146Cys
ENST00000335295.4:c.437A>G ENSP00000333994.3:p.Tyr146Cys
ENST00000633227.1:c.*253A>G ENSP00000488004.1:p.=