Linked Data
ClinVar Variation Id:
189478
ClinVar RCV Id:
RCV000169869
dbSNP Id:
rs786204924
gnomAD v3:
10-87863480-T-C
gnomAD v4:
10-87863480-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863480T>C , CM000672.2:g.87863480T>C | GRCh38 |
| NC_000010.10:g.89623237T>C , CM000672.1:g.89623237T>C | GRCh37 |
| NC_000010.9:g.89613217T>C | NCBI36 |
| NG_007466.2:g.5043T>C , LRG_311:g.5043T>C | |
| NG_033079.1:g.4958A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+838T>C (PTEN) | ENSP00000516674.1:n.-17+838T>C | |
| ENST00000688308.1:c.-17+367T>C (PTEN) | ENSP00000508752.1:n.-17+367T>C | |
| ENST00000693560.1:c.-470T>C (PTEN) | ENSP00000509861.1:n.-470T>C | |
| ENST00000445946.5:c.-993A>G (KLLN) MANE Select | ENSP00000392204.2:n.-993A>G | |
| ENST00000371953.7:c.-990T>C (PTEN) | ENSP00000361021.3:n.-990T>C | |
| ENST00000610634.1:c.-1092T>C (PTEN) | ENSP00000477517.1:n.-1092T>C | |
| NM_000314.5:c.-989T>C (PTEN) | NP_000305.3:n.-989T>C | |
| NM_000314.6:c.-989T>C (PTEN) | NP_000305.3:n.-989T>C | |
| NM_001304717.2:c.-470T>C (PTEN) | NP_001291646.2:n.-470T>C | |
| NM_001304718.1:c.-1694T>C (PTEN) | NP_001291647.1:n.-1694T>C | |
| NM_001126049.2:c.-993A>G (KLLN) MANE Select | NP_001119521.1:n.-993A>G |