Canonical Allele Identifier: CA124993
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15245
dbSNP Id: rs111645889
gnomAD v2: 11-5246883-G-A
gnomAD v3: 11-5225653-G-A
gnomAD v4: 11-5225653-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225653G>A , CM000673.2:g.5225653G>A GRCh38
NC_000011.9:g.5246883G>A , CM000673.1:g.5246883G>A GRCh37
NC_000011.8:g.5203459G>A NCBI36
NG_000007.3:g.71963C>T
NG_059281.1:g.6419C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.389C>T ENSP00000494175.1:p.Ala130Val
ENST00000335295.4:c.389C>T MANE Select ENSP00000333994.3:p.Ala130Val
ENST00000633227.1:c.*205C>T ENSP00000488004.1:n.*205C>T
NM_000518.4:c.389C>T NP_000509.1:p.Ala130Val
NM_000518.5:c.389C>T MANE Select NP_000509.1:p.Ala130Val