Linked Data
ClinVar Variation Id:
127683
ClinVar RCV Id:
RCV001019509
dbSNP Id:
rs1589594030
gnomAD v3:
10-87863512-G-C
gnomAD v4:
10-87863512-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863512G>C , CM000672.2:g.87863512G>C | GRCh38 |
| NC_000010.10:g.89623269G>C , CM000672.1:g.89623269G>C | GRCh37 |
| NC_000010.9:g.89613249G>C | NCBI36 |
| NG_007466.2:g.5075G>C , LRG_311:g.5075G>C | |
| NG_033079.1:g.4926C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+870G>C (PTEN) | ENSP00000516674.1:n.-17+870G>C | |
| ENST00000688308.1:c.-17+399G>C (PTEN) | ENSP00000508752.1:n.-17+399G>C | |
| ENST00000693560.1:c.-438G>C (PTEN) | ENSP00000509861.1:n.-438G>C | |
| ENST00000445946.5:c.-1025C>G (KLLN) MANE Select | ENSP00000392204.2:n.-1025C>G | |
| ENST00000371953.7:c.-958G>C (PTEN) | ENSP00000361021.3:n.-958G>C | |
| ENST00000610634.1:c.-1060G>C (PTEN) | ENSP00000477517.1:n.-1060G>C | |
| NM_000314.5:c.-957G>C (PTEN) | NP_000305.3:n.-957G>C | |
| NM_000314.6:c.-957G>C (PTEN) | NP_000305.3:n.-957G>C | |
| NM_001304717.2:c.-438G>C (PTEN) | NP_001291646.2:n.-438G>C | |
| NM_001304718.1:c.-1662G>C (PTEN) | NP_001291647.1:n.-1662G>C | |
| NM_001126049.2:c.-1025C>G (KLLN) MANE Select | NP_001119521.1:n.-1025C>G |