chr11:5226802:A>T Detail (hg38) (HBB)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:5,248,032-5,248,032 View the variant detail on this assembly version. |
hg38 | chr11:5,226,802-5,226,802 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000518.4:c.93-3T>A | |
Ensemble | ENST00000335295.4:c.93-3T>A | |
ENST00000485743.1:c.93-3T>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.672 | beta thalassemia | NA | CLINVAR | Detail |
Annotation
Genome browser