Linked Data
ClinVar Variation Id:
1321070
ClinVar RCV Id:
RCV001777049
dbSNP Id:
rs960884250
gnomAD v3:
10-87863597-G-C
gnomAD v4:
10-87863597-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863597G>C , CM000672.2:g.87863597G>C | GRCh38 |
| NC_000010.10:g.89623354G>C , CM000672.1:g.89623354G>C | GRCh37 |
| NC_000010.9:g.89613334G>C | NCBI36 |
| NG_007466.2:g.5160G>C , LRG_311:g.5160G>C | |
| NG_033079.1:g.4841C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-16-857G>C (PTEN) | ENSP00000516674.1:n.-16-857G>C | |
| ENST00000688308.1:c.-17+484G>C (PTEN) | ENSP00000508752.1:n.-17+484G>C | |
| ENST00000692337.1:c.39G>C (MLDHR) | ENSP00000509326.1:p.Ala13= | |
| ENST00000693560.1:c.-353G>C (PTEN) | ENSP00000509861.1:n.-353G>C | |
| ENST00000371953.7:c.-873G>C (PTEN) | ENSP00000361021.3:n.-873G>C | |
| ENST00000610634.1:c.-975G>C (PTEN) | ENSP00000477517.1:n.-975G>C | |
| NM_000314.5:c.-872G>C (PTEN) | NP_000305.3:n.-872G>C | |
| NM_000314.6:c.-872G>C (PTEN) | NP_000305.3:n.-872G>C | |
| NM_001304717.2:c.-353G>C (PTEN) | NP_001291646.2:n.-353G>C | |
| NM_001304718.1:c.-1577G>C (PTEN) | NP_001291647.1:n.-1577G>C |