Canonical Allele Identifier: CA124795
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15137
ClinVar RCV Id: RCV000016300
dbSNP Id: rs34362537

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226677A>G , CM000673.2:g.5226677A>G GRCh38
NC_000011.9:g.5247907A>G , CM000673.1:g.5247907A>G GRCh37
NC_000011.8:g.5204483A>G NCBI36
NG_000007.3:g.70939T>C
NG_059281.1:g.5395T>C

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.215T>C VV NP_000509.1:p.Phe72Ser
NM_000518.5:c.215T>C VV MANE Preferred NP_000509.1:p.Phe72Ser
ENST00000335295.4:c.215T>C ENSP00000333994.3:p.Phe72Ser
ENST00000380315.2:c.215T>C ENSP00000369671.2:p.Phe72Ser
ENST00000475226.1:n.147T>C
ENST00000485743.1:n.266T>C
ENST00000633227.1:c.*31T>C ENSP00000488004.1:p.=