Linked Data
ClinVar Variation Id:
185812
ClinVar RCV Id:
RCV000165302
dbSNP Id:
rs786202476
gnomAD v4:
10-87863467-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863467C>A , CM000672.2:g.87863467C>A | GRCh38 |
| NC_000010.10:g.89623224C>A , CM000672.1:g.89623224C>A | GRCh37 |
| NC_000010.9:g.89613204C>A | NCBI36 |
| NG_007466.2:g.5030C>A , LRG_311:g.5030C>A | |
| NG_033079.1:g.4971G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+825C>A (PTEN) | ENSP00000516674.1:n.-17+825C>A | |
| ENST00000688308.1:c.-17+354C>A (PTEN) | ENSP00000508752.1:n.-17+354C>A | |
| ENST00000693560.1:c.-483C>A (PTEN) | ENSP00000509861.1:n.-483C>A | |
| ENST00000445946.5:c.-980G>T (KLLN) MANE Select | ENSP00000392204.2:n.-980G>T | |
| ENST00000371953.7:c.-1003C>A (PTEN) | ENSP00000361021.3:n.-1003C>A | |
| ENST00000610634.1:c.-1105C>A (PTEN) | ENSP00000477517.1:n.-1105C>A | |
| NM_000314.5:c.-1002C>A (PTEN) | NP_000305.3:n.-1002C>A | |
| NM_000314.6:c.-1002C>A (PTEN) | NP_000305.3:n.-1002C>A | |
| NM_001304717.2:c.-483C>A (PTEN) | NP_001291646.2:n.-483C>A | |
| NM_001304718.1:c.-1707C>A (PTEN) | NP_001291647.1:n.-1707C>A | |
| NM_001126049.2:c.-980G>T (KLLN) MANE Select | NP_001119521.1:n.-980G>T |