Canonical Allele Identifier: CA124937
Gene: HBB HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5226722C>T
GRCh37 chr11:g.5247952C>T
Revel Score:
ENST00000335295 (MANE Select) 0.636
ENST00000380315 0.636
gnomAD v2:
11:5247952 C / T
gnomAD v3:
11:5226722 C / T
gnomAD v4:
chr11-5226722-C-T
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
ClinVar RCV:
RCV000016405
RCV001811154
ClinVar Variation:
15214
dbSNP:
34439278
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226722C>T , CM000673.2:g.5226722C>T GRCh38
NC_000011.9:g.5247952C>T , CM000673.1:g.5247952C>T GRCh37
NC_000011.8:g.5204528C>T NCBI36
NG_000007.3:g.70894G>A
NG_059281.1:g.5350G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.170G>A ENSP00000494175.1:p.Gly57Asp
ENST00000335295.4:c.170G>A MANE Select ENSP00000333994.3:p.Gly57Asp
ENST00000380315.2:c.170G>A ENSP00000369671.2:p.Gly57Asp
ENST00000475226.1:n.102G>A
ENST00000485743.1:n.221G>A
ENST00000633227.1:c.154G>A ENSP00000488004.1:p.Ala52Thr
NM_000518.4:c.170G>A NP_000509.1:p.Gly57Asp
NM_000518.5:c.170G>A MANE Select NP_000509.1:p.Gly57Asp
Search 100 bp 5'
Search 100 bp 3'