Canonical Allele Identifier: CA124888
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15189
dbSNP Id: rs33974228
gnomAD v2: 11-5248218-C-T
gnomAD v3: 11-5226988-C-T
gnomAD v4: 11-5226988-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226988C>T , CM000673.2:g.5226988C>T GRCh38
NC_000011.9:g.5248218C>T , CM000673.1:g.5248218C>T GRCh37
NC_000011.8:g.5204794C>T NCBI36
NG_000007.3:g.70628G>A
NG_059281.1:g.5084G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.34G>A ENSP00000494175.1:p.Val12Ile
ENST00000335295.4:c.34G>A MANE Select ENSP00000333994.3:p.Val12Ile
ENST00000380315.2:c.34G>A ENSP00000369671.2:p.Val12Ile
ENST00000485743.1:n.85G>A
ENST00000633227.1:c.34G>A ENSP00000488004.1:p.Val12Ile
NM_000518.4:c.34G>A NP_000509.1:p.Val12Ile
NM_000518.5:c.34G>A MANE Select NP_000509.1:p.Val12Ile