Linked Data
ClinVar Variation Id:
488763
ClinVar RCV Id:
RCV000578863
dbSNP Id:
rs1052921124
gnomAD v4:
10-87863506-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863506C>G , CM000672.2:g.87863506C>G | GRCh38 |
| NC_000010.10:g.89623263C>G , CM000672.1:g.89623263C>G | GRCh37 |
| NC_000010.9:g.89613243C>G | NCBI36 |
| NG_007466.2:g.5069C>G , LRG_311:g.5069C>G | |
| NG_033079.1:g.4932G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+864C>G (PTEN) | ENSP00000516674.1:n.-17+864C>G | |
| ENST00000688308.1:c.-17+393C>G (PTEN) | ENSP00000508752.1:n.-17+393C>G | |
| ENST00000693560.1:c.-444C>G (PTEN) | ENSP00000509861.1:n.-444C>G | |
| ENST00000445946.5:c.-1019G>C (KLLN) MANE Select | ENSP00000392204.2:n.-1019G>C | |
| ENST00000371953.7:c.-964C>G (PTEN) | ENSP00000361021.3:n.-964C>G | |
| ENST00000610634.1:c.-1066C>G (PTEN) | ENSP00000477517.1:n.-1066C>G | |
| NM_000314.5:c.-963C>G (PTEN) | NP_000305.3:n.-963C>G | |
| NM_000314.6:c.-963C>G (PTEN) | NP_000305.3:n.-963C>G | |
| NM_001304717.2:c.-444C>G (PTEN) | NP_001291646.2:n.-444C>G | |
| NM_001304718.1:c.-1668C>G (PTEN) | NP_001291647.1:n.-1668C>G | |
| NM_001126049.2:c.-1019G>C (KLLN) MANE Select | NP_001119521.1:n.-1019G>C |