Canonical Allele Identifier: CA125176
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15357
ClinVar RCV Id: RCV000016607
dbSNP Id: rs35871407

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225707A>G , CM000673.2:g.5225707A>G GRCh38
NC_000011.9:g.5246937A>G , CM000673.1:g.5246937A>G GRCh37
NC_000011.8:g.5203513A>G NCBI36
NG_000007.3:g.71909T>C
NG_059281.1:g.6365T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.335T>C ENSP00000494175.1:p.Val112Ala
ENST00000335295.4:c.335T>C MANE Select ENSP00000333994.3:p.Val112Ala
ENST00000475226.1:n.267T>C
ENST00000633227.1:c.*151T>C ENSP00000488004.1:p.=
NM_000518.4:c.335T>C NP_000509.1:p.Val112Ala
NM_000518.5:c.335T>C MANE Select NP_000509.1:p.Val112Ala