Linked Data
ClinVar Variation Id:
2573390
ClinVar RCV Id:
RCV003317726
dbSNP Id:
rs1027097811
gnomAD v3:
10-87863439-C-T
gnomAD v4:
10-87863439-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863439C>T , CM000672.2:g.87863439C>T | GRCh38 |
| NC_000010.10:g.89623196C>T , CM000672.1:g.89623196C>T | GRCh37 |
| NC_000010.9:g.89613176C>T | NCBI36 |
| NG_007466.2:g.5002C>T , LRG_311:g.5002C>T | |
| NG_033079.1:g.4999G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+797C>T (PTEN) | ENSP00000516674.1:n.-17+797C>T | |
| ENST00000688308.1:c.-17+326C>T (PTEN) | ENSP00000508752.1:n.-17+326C>T | |
| ENST00000693560.1:c.-511C>T (PTEN) | ENSP00000509861.1:n.-511C>T | |
| ENST00000445946.5:c.-952G>A (KLLN) MANE Select | ENSP00000392204.2:n.-952G>A | |
| ENST00000371953.7:c.-1031C>T (PTEN) | ENSP00000361021.3:n.-1031C>T | |
| ENST00000610634.1:c.-1133C>T (PTEN) | ENSP00000477517.1:n.-1133C>T | |
| NM_000314.5:c.-1030C>T (PTEN) | NP_000305.3:n.-1030C>T | |
| NM_000314.6:c.-1030C>T (PTEN) | NP_000305.3:n.-1030C>T | |
| NM_001304717.2:c.-511C>T (PTEN) | NP_001291646.2:n.-511C>T | |
| NM_001304718.1:c.-1735C>T (PTEN) | NP_001291647.1:n.-1735C>T | |
| NM_001126049.2:c.-952G>A (KLLN) MANE Select | NP_001119521.1:n.-952G>A |