Linked Data
ClinVar Variation Id:
189520
ClinVar RCV Id:
RCV003482138
dbSNP Id:
rs144620057
gnomAD v2:
10-89623167-C-G
gnomAD v3:
10-87863410-C-G
gnomAD v4:
10-87863410-C-G
ERepo:
CA300594/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863410C>G , CM000672.2:g.87863410C>G | GRCh38 |
| NC_000010.10:g.89623167C>G , CM000672.1:g.89623167C>G | GRCh37 |
| NC_000010.9:g.89613147C>G | NCBI36 |
| NG_007466.2:g.4973C>G , LRG_311:g.4973C>G | |
| NG_033079.1:g.5028G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706954.1:c.-17+768C>G (PTEN) | ENSP00000516674.1:n.-17+768C>G | |
| ENST00000688308.1:c.-17+297C>G (PTEN) | ENSP00000508752.1:n.-17+297C>G | |
| ENST00000445946.5:c.-923G>C (KLLN) MANE Select | ENSP00000392204.2:n.-923G>C | |
| ENST00000371953.7:c.-1060C>G (PTEN) | ENSP00000361021.3:n.-1060C>G | |
| ENST00000445946.3:c.-923G>C (KLLN) | ENSP00000392204.2:n.-923G>C | |
| NM_001126049.1:c.-923G>C (KLLN) | NP_001119521.1:n.-923G>C | |
| NM_001126049.2:c.-923G>C (KLLN) MANE Select | NP_001119521.1:n.-923G>C |