Canonical Allele Identifier: CA125086
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15300
dbSNP Id: rs35890959
gnomAD v2: 11-5248191-C-T
gnomAD v3: 11-5226961-C-T
gnomAD v4: 11-5226961-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226961C>T , CM000673.2:g.5226961C>T GRCh38
NC_000011.9:g.5248191C>T , CM000673.1:g.5248191C>T GRCh37
NC_000011.8:g.5204767C>T NCBI36
NG_000007.3:g.70655G>A
NG_059281.1:g.5111G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.61G>A ENSP00000494175.1:p.Val21Met
ENST00000335295.4:c.61G>A MANE Select ENSP00000333994.3:p.Val21Met
ENST00000380315.2:c.61G>A ENSP00000369671.2:p.Val21Met
ENST00000485743.1:n.112G>A
ENST00000633227.1:c.61G>A ENSP00000488004.1:p.Val21Met
NM_000518.4:c.61G>A NP_000509.1:p.Val21Met
NM_000518.5:c.61G>A MANE Select NP_000509.1:p.Val21Met