Linked Data
ClinVar Variation Id:
823484
ClinVar RCV Id:
RCV001019762
dbSNP Id:
rs786203535
gnomAD v4:
10-87863490-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863490C>A , CM000672.2:g.87863490C>A | GRCh38 |
| NC_000010.10:g.89623247C>A , CM000672.1:g.89623247C>A | GRCh37 |
| NC_000010.9:g.89613227C>A | NCBI36 |
| NG_007466.2:g.5053C>A , LRG_311:g.5053C>A | |
| NG_033079.1:g.4948G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+848C>A (PTEN) | ENSP00000516674.1:n.-17+848C>A | |
| ENST00000688308.1:c.-17+377C>A (PTEN) | ENSP00000508752.1:n.-17+377C>A | |
| ENST00000693560.1:c.-460C>A (PTEN) | ENSP00000509861.1:n.-460C>A | |
| ENST00000445946.5:c.-1003G>T (KLLN) MANE Select | ENSP00000392204.2:n.-1003G>T | |
| ENST00000371953.7:c.-980C>A (PTEN) | ENSP00000361021.3:n.-980C>A | |
| ENST00000610634.1:c.-1082C>A (PTEN) | ENSP00000477517.1:n.-1082C>A | |
| NM_000314.5:c.-979C>A (PTEN) | NP_000305.3:n.-979C>A | |
| NM_000314.6:c.-979C>A (PTEN) | NP_000305.3:n.-979C>A | |
| NM_001304717.2:c.-460C>A (PTEN) | NP_001291646.2:n.-460C>A | |
| NM_001304718.1:c.-1684C>A (PTEN) | NP_001291647.1:n.-1684C>A | |
| NM_001126049.2:c.-1003G>T (KLLN) MANE Select | NP_001119521.1:n.-1003G>T |