chr11:5226947:A>C Detail (hg38) (HBB)

Information

Genome

Assembly Position
hg19 chr11:5,248,177-5,248,177 View the variant detail on this assembly version.
hg38 chr11:5,226,947-5,226,947

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.75T>G NP_000509.1:p.Gly25=
Ensemble ENST00000335295.4:c.75T>G ENST00000335295.4:p.Gly25=
ENST00000485743.1:c.75T>G ENST00000485743.1:p.Gly25=
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
0.287 alpha-Thalassemia NA CLINVAR Detail
0.672 beta thalassemia 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
rs33951465 dbSNP
Genome
hg38
Position
chr11:5,226,947-5,226,947
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Genome browser