chr11:5226762:C>G Detail (hg38) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,247,992-5,247,992 View the variant detail on this assembly version.
hg38 chr11:5,226,762-5,226,762

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.130G>C NP_000509.1:p.Glu44Gln
Ensemble ENST00000335295.4:c.130G>C ENST00000335295.4:p.Glu44Gln
ENST00000485743.1:c.130G>C ENST00000485743.1:p.Glu44Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
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 tgv216175116 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2017-12-12 no assertion criteria provided not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.127 beta^0^ Thalassemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.4(HBB):c.130G>C (p.Glu44Gln) AND not specified ClinVar 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
rs33922842 dbSNP
Genome
hg38
Position
chr11:5,226,762-5,226,762
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser