Linked Data
ClinVar Variation Id:
488867
ClinVar RCV Id:
RCV000579294
dbSNP Id:
rs1554889807
gnomAD v4:
10-87863243-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863243A>C , CM000672.2:g.87863243A>C | GRCh38 |
| NC_000010.10:g.89623000A>C , CM000672.1:g.89623000A>C | GRCh37 |
| NC_000010.9:g.89612980A>C | NCBI36 |
| NG_007466.2:g.4806A>C , LRG_311:g.4806A>C | |
| NG_033079.1:g.5195T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+601A>C (PTEN) | ENSP00000516674.1:n.-17+601A>C | |
| ENST00000688308.1:c.-17+130A>C (PTEN) | ENSP00000508752.1:n.-17+130A>C | |
| ENST00000445946.5:c.-756T>G (KLLN) MANE Select | ENSP00000392204.2:n.-756T>G | |
| ENST00000371953.7:c.-1227A>C (PTEN) | ENSP00000361021.3:n.-1227A>C | |
| ENST00000445946.3:c.-756T>G (KLLN) | ENSP00000392204.2:n.-756T>G | |
| NM_001126049.1:c.-756T>G (KLLN) | NP_001119521.1:n.-756T>G | |
| NM_001126049.2:c.-756T>G (KLLN) MANE Select | NP_001119521.1:n.-756T>G |