Canonical Allele Identifier: CA125034
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15270
ClinVar RCV Id: RCV000016496
dbSNP Id: rs33945546

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226951A>C , CM000673.2:g.5226951A>C GRCh38
NC_000011.9:g.5248181A>C , CM000673.1:g.5248181A>C GRCh37
NC_000011.8:g.5204757A>C NCBI36
NG_000007.3:g.70665T>G
NG_059281.1:g.5121T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.71T>G ENSP00000494175.1:p.Val24Gly
ENST00000335295.4:c.71T>G MANE Select ENSP00000333994.3:p.Val24Gly
ENST00000380315.2:c.71T>G ENSP00000369671.2:p.Val24Gly
ENST00000485743.1:n.122T>G
ENST00000633227.1:c.71T>G ENSP00000488004.1:p.Val24Gly
NM_000518.4:c.71T>G NP_000509.1:p.Val24Gly
NM_000518.5:c.71T>G MANE Select NP_000509.1:p.Val24Gly