Linked Data
ClinVar Variation Id:
818802
ClinVar RCV Id:
RCV001010759
dbSNP Id:
rs1589593479
gnomAD v4:
10-87863184-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863184C>T , CM000672.2:g.87863184C>T | GRCh38 |
| NC_000010.10:g.89622941C>T , CM000672.1:g.89622941C>T | GRCh37 |
| NC_000010.9:g.89612921C>T | NCBI36 |
| NG_007466.2:g.4747C>T , LRG_311:g.4747C>T | |
| NG_033079.1:g.5254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+542C>T (PTEN) | ENSP00000516674.1:n.-17+542C>T | |
| ENST00000688308.1:c.-17+71C>T (PTEN) | ENSP00000508752.1:n.-17+71C>T | |
| ENST00000445946.5:c.-697G>A (KLLN) MANE Select | ENSP00000392204.2:n.-697G>A | |
| ENST00000371953.7:c.-1286C>T (PTEN) | ENSP00000361021.3:n.-1286C>T | |
| ENST00000445946.3:c.-697G>A (KLLN) | ENSP00000392204.2:n.-697G>A | |
| NM_001126049.1:c.-697G>A (KLLN) | NP_001119521.1:n.-697G>A | |
| NM_001126049.2:c.-697G>A (KLLN) MANE Select | NP_001119521.1:n.-697G>A |