Linked Data
ClinVar Variation Id:
488886
ClinVar RCV Id:
RCV000578580
dbSNP Id:
rs1554889780
gnomAD v4:
10-87863168-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863168T>G , CM000672.2:g.87863168T>G | GRCh38 |
| NC_000010.10:g.89622925T>G , CM000672.1:g.89622925T>G | GRCh37 |
| NC_000010.9:g.89612905T>G | NCBI36 |
| NG_007466.2:g.4731T>G , LRG_311:g.4731T>G | |
| NG_033079.1:g.5270A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+526T>G (PTEN) | ENSP00000516674.1:n.-17+526T>G | |
| ENST00000688308.1:c.-17+55T>G (PTEN) | ENSP00000508752.1:n.-17+55T>G | |
| ENST00000445946.5:c.-681A>C (KLLN) MANE Select | ENSP00000392204.2:n.-681A>C | |
| ENST00000371953.7:c.-1302T>G (PTEN) | ENSP00000361021.3:n.-1302T>G | |
| ENST00000445946.3:c.-681A>C (KLLN) | ENSP00000392204.2:n.-681A>C | |
| NM_001126049.1:c.-681A>C (KLLN) | NP_001119521.1:n.-681A>C | |
| NM_001126049.2:c.-681A>C (KLLN) MANE Select | NP_001119521.1:n.-681A>C |