chr11:5226612:A>G Detail (hg38) (HBB, LOC106099062, LOC107133510, LOC110006319)

Information

Genome

Assembly Position
hg19 chr11:5,247,842-5,247,842 View the variant detail on this assembly version.
hg38 chr11:5,226,612-5,226,612

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.280T>C NP_000509.1:p.Cys94Arg
Ensemble ENST00000335295.4:c.280T>C ENST00000335295.4:p.Cys94Arg
ENST00000485743.1:c.280T>C ENST00000485743.1:p.Cys94Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance other
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
other 2017-12-12 no assertion criteria provided germline Detail
other 2017-12-12 no assertion criteria provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.280T>C (p.Cys94Arg) AND HEMOGLOBIN OKAZAKI ClinVar Detail
NM_000518.4(HBB):c.[280T>C;364G>C] AND HEMOGLOBIN CLEVELAND ClinVar 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
rs33972927 dbSNP
Genome
hg38
Position
chr11:5,226,612-5,226,612
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser