Canonical Allele Identifier: CA125381
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15518
ClinVar RCV Id: RCV000016782
dbSNP Id: rs33983205

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227014T>A , CM000673.2:g.5227014T>A GRCh38
NC_000011.9:g.5248244T>A , CM000673.1:g.5248244T>A GRCh37
NC_000011.8:g.5204820T>A NCBI36
NG_000007.3:g.70602A>T
NG_059281.1:g.5058A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.8A>T ENSP00000494175.1:p.His3Leu
ENST00000335295.4:c.8A>T MANE Select ENSP00000333994.3:p.His3Leu
ENST00000380315.2:c.8A>T ENSP00000369671.2:p.His3Leu
ENST00000485743.1:n.59A>T
ENST00000633227.1:c.8A>T ENSP00000488004.1:p.His3Leu
NM_000518.4:c.8A>T NP_000509.1:p.His3Leu
NM_000518.5:c.8A>T MANE Select NP_000509.1:p.His3Leu