Linked Data
ClinVar Variation Id:
488914
ClinVar RCV Id:
RCV000578916
dbSNP Id:
rs960884250
gnomAD v3:
10-87863597-G-A
gnomAD v4:
10-87863597-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863597G>A , CM000672.2:g.87863597G>A | GRCh38 |
| NC_000010.10:g.89623354G>A , CM000672.1:g.89623354G>A | GRCh37 |
| NC_000010.9:g.89613334G>A | NCBI36 |
| NG_007466.2:g.5160G>A , LRG_311:g.5160G>A | |
| NG_033079.1:g.4841C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-16-857G>A (PTEN) | ENSP00000516674.1:n.-16-857G>A | |
| ENST00000688308.1:c.-17+484G>A (PTEN) | ENSP00000508752.1:n.-17+484G>A | |
| ENST00000692337.1:c.39G>A (MLDHR) | ENSP00000509326.1:p.Ala13= | |
| ENST00000693560.1:c.-353G>A (PTEN) | ENSP00000509861.1:n.-353G>A | |
| ENST00000371953.7:c.-873G>A (PTEN) | ENSP00000361021.3:n.-873G>A | |
| ENST00000610634.1:c.-975G>A (PTEN) | ENSP00000477517.1:n.-975G>A | |
| NM_000314.5:c.-872G>A (PTEN) | NP_000305.3:n.-872G>A | |
| NM_000314.6:c.-872G>A (PTEN) | NP_000305.3:n.-872G>A | |
| NM_001304717.2:c.-353G>A (PTEN) | NP_001291646.2:n.-353G>A | |
| NM_001304718.1:c.-1577G>A (PTEN) | NP_001291647.1:n.-1577G>A |