Linked Data
ClinVar Variation Id:
822916
ClinVar RCV Id:
RCV001018686
dbSNP Id:
rs1159376330
gnomAD v3:
10-87863567-G-A
gnomAD v4:
10-87863567-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863567G>A , CM000672.2:g.87863567G>A | GRCh38 |
| NC_000010.10:g.89623324G>A , CM000672.1:g.89623324G>A | GRCh37 |
| NC_000010.9:g.89613304G>A | NCBI36 |
| NG_007466.2:g.5130G>A , LRG_311:g.5130G>A | |
| NG_033079.1:g.4871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-16-887G>A (PTEN) | ENSP00000516674.1:n.-16-887G>A | |
| ENST00000688308.1:c.-17+454G>A (PTEN) | ENSP00000508752.1:n.-17+454G>A | |
| ENST00000692337.1:c.9G>A (MLDHR) | ENSP00000509326.1:p.Arg3= | |
| ENST00000693560.1:c.-383G>A (PTEN) | ENSP00000509861.1:n.-383G>A | |
| ENST00000371953.7:c.-903G>A (PTEN) | ENSP00000361021.3:n.-903G>A | |
| ENST00000610634.1:c.-1005G>A (PTEN) | ENSP00000477517.1:n.-1005G>A | |
| NM_000314.5:c.-902G>A (PTEN) | NP_000305.3:n.-902G>A | |
| NM_000314.6:c.-902G>A (PTEN) | NP_000305.3:n.-902G>A | |
| NM_001304717.2:c.-383G>A (PTEN) | NP_001291646.2:n.-383G>A | |
| NM_001304718.1:c.-1607G>A (PTEN) | NP_001291647.1:n.-1607G>A |