Canonical Allele Identifier: CA124746
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15109
ClinVar RCV Id: RCV000016263
dbSNP Id: rs33947020

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225683C>A , CM000673.2:g.5225683C>A GRCh38
NC_000011.9:g.5246913C>A , CM000673.1:g.5246913C>A GRCh37
NC_000011.8:g.5203489C>A NCBI36
NG_000007.3:g.71933G>T
NG_059281.1:g.6389G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.359G>T ENSP00000494175.1:p.Gly120Val
ENST00000335295.4:c.359G>T MANE Select ENSP00000333994.3:p.Gly120Val
ENST00000475226.1:n.291G>T
ENST00000633227.1:c.*175G>T ENSP00000488004.1:n.*175G>T
NM_000518.4:c.359G>T NP_000509.1:p.Gly120Val
NM_000518.5:c.359G>T MANE Select NP_000509.1:p.Gly120Val