chr11:5226943:C>G Detail (hg38) (HBB)

Information

Genome

Assembly Position
hg19 chr11:5,248,173-5,248,173 View the variant detail on this assembly version.
hg38 chr11:5,226,943-5,226,943

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.79G>C NP_000509.1:p.Glu27Gln
Ensemble ENST00000335295.4:c.79G>C ENST00000335295.4:p.Glu27Gln
ENST00000485743.1:c.79G>C ENST00000485743.1:p.Glu27Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 141900 OMIM
HGNC 4827 HGNC
Ensembl ENSG00000244734 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Malaria, resistance to NA CLINVAR Detail
0.578 Anemia, Sickle Cell NA CLINVAR Detail
0.263 Hemoglobinopathies Hemoglobin E (E26K variant of beta-globin gene) causing hemoglobinopathy is comm... BeFree 19230568 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
Hemoglobin E (E26K variant of beta-globin gene) causing hemoglobinopathy is commonly observed in par... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs33950507 dbSNP
Genome
hg38
Position
chr11:5,226,943-5,226,943
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser