Linked Data
ClinVar Variation Id:
2573391
ClinVar RCV Id:
RCV003317727
dbSNP Id:
rs587779995
gnomAD v2:
10-89623383-T-G
gnomAD v3:
10-87863626-T-G
gnomAD v4:
10-87863626-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863626T>G , CM000672.2:g.87863626T>G | GRCh38 |
| NC_000010.10:g.89623383T>G , CM000672.1:g.89623383T>G | GRCh37 |
| NC_000010.9:g.89613363T>G | NCBI36 |
| NG_007466.2:g.5189T>G , LRG_311:g.5189T>G | |
| NG_033079.1:g.4812A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.-844T>G (PTEN) | ENSP00000514759.2:n.-844T>G | |
| ENST00000710265.1:c.-844T>G (PTEN) | ENSP00000518161.1:n.-844T>G | |
| ENST00000706954.1:c.-16-828T>G (PTEN) | ENSP00000516674.1:n.-16-828T>G | |
| ENST00000706955.1:c.-844T>G (PTEN) | ENSP00000516675.1:n.-844T>G | |
| ENST00000688158.1:c.-844T>G (PTEN) | ENSP00000509254.1:n.-844T>G | |
| ENST00000688308.1:c.-17+513T>G (PTEN) | ENSP00000508752.1:n.-17+513T>G | |
| ENST00000692337.1:c.68T>G (MLDHR) | ENSP00000509326.1:p.Val23Gly | |
| ENST00000693560.1:c.-324T>G (PTEN) | ENSP00000509861.1:n.-324T>G | |
| ENST00000371953.8:c.-844T>G (PTEN) MANE Select | ENSP00000361021.3:n.-844T>G | |
| ENST00000371953.7:c.-844T>G (PTEN) | ENSP00000361021.3:n.-844T>G | |
| ENST00000610634.1:c.-946T>G (PTEN) | ENSP00000477517.1:n.-946T>G | |
| NM_000314.5:c.-843T>G (PTEN) | NP_000305.3:n.-843T>G | |
| NM_000314.6:c.-843T>G (PTEN) | NP_000305.3:n.-843T>G | |
| NM_001304717.2:c.-324T>G (PTEN) | NP_001291646.2:n.-324T>G | |
| NM_001304718.1:c.-1548T>G (PTEN) | NP_001291647.1:n.-1548T>G | |
| NM_000314.7:c.-843T>G (PTEN) | NP_000305.3:n.-843T>G | |
| NM_001304717.5:c.-324T>G (PTEN) | NP_001291646.4:n.-324T>G | |
| NM_001304718.2:c.-1548T>G (PTEN) | NP_001291647.1:n.-1548T>G | |
| NM_000314.8:c.-844T>G (PTEN) MANE Select | NP_000305.3:n.-844T>G |