Linked Data
ClinVar Variation Id:
488721
ClinVar RCV Id:
RCV000578680
dbSNP Id:
rs1554889945
gnomAD v4:
10-87863579-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863579C>T , CM000672.2:g.87863579C>T | GRCh38 |
| NC_000010.10:g.89623336C>T , CM000672.1:g.89623336C>T | GRCh37 |
| NC_000010.9:g.89613316C>T | NCBI36 |
| NG_007466.2:g.5142C>T , LRG_311:g.5142C>T | |
| NG_033079.1:g.4859G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-16-875C>T (PTEN) | ENSP00000516674.1:n.-16-875C>T | |
| ENST00000688308.1:c.-17+466C>T (PTEN) | ENSP00000508752.1:n.-17+466C>T | |
| ENST00000692337.1:c.21C>T (MLDHR) | ENSP00000509326.1:p.Cys7= | |
| ENST00000693560.1:c.-371C>T (PTEN) | ENSP00000509861.1:n.-371C>T | |
| ENST00000371953.7:c.-891C>T (PTEN) | ENSP00000361021.3:n.-891C>T | |
| ENST00000610634.1:c.-993C>T (PTEN) | ENSP00000477517.1:n.-993C>T | |
| NM_000314.5:c.-890C>T (PTEN) | NP_000305.3:n.-890C>T | |
| NM_000314.6:c.-890C>T (PTEN) | NP_000305.3:n.-890C>T | |
| NM_001304717.2:c.-371C>T (PTEN) | NP_001291646.2:n.-371C>T | |
| NM_001304718.1:c.-1595C>T (PTEN) | NP_001291647.1:n.-1595C>T |