chr11:5247827:C>A Detail (hg19) (HBB)

Information

Genome

Assembly Position
hg19 chr11:5,247,827-5,247,827
hg38 chr11:5,226,597-5,226,597 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.295G>T NP_000509.1:p.Val99Leu
Ensemble ENST00000647020.1:c.295G>T ENST00000647020.1:p.Val99Leu
ENST00000485743.1:c.295G>T ENST00000485743.1:p.Val99Leu
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
0.263 Hemoglobinopathies NA CLINVAR Detail
0.360 Heinz Body Anemias NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA 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
rs33933298 dbSNP
Genome
hg19
Position
chr11:5,247,827-5,247,827
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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