Linked Data
ClinVar Variation Id:
141662
ClinVar RCV Id:
RCV000130269
dbSNP Id:
rs587781920
gnomAD v3:
10-87863630-C-G
gnomAD v4:
10-87863630-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863630C>G , CM000672.2:g.87863630C>G | GRCh38 |
| NC_000010.10:g.89623387C>G , CM000672.1:g.89623387C>G | GRCh37 |
| NC_000010.9:g.89613367C>G | NCBI36 |
| NG_007466.2:g.5193C>G , LRG_311:g.5193C>G | |
| NG_033079.1:g.4808G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.-840C>G (PTEN) | ENSP00000514759.2:n.-840C>G | |
| ENST00000710265.1:c.-840C>G (PTEN) | ENSP00000518161.1:n.-840C>G | |
| ENST00000706954.1:c.-16-824C>G (PTEN) | ENSP00000516674.1:n.-16-824C>G | |
| ENST00000706955.1:c.-840C>G (PTEN) | ENSP00000516675.1:n.-840C>G | |
| ENST00000688158.1:c.-840C>G (PTEN) | ENSP00000509254.1:n.-840C>G | |
| ENST00000688308.1:c.-17+517C>G (PTEN) | ENSP00000508752.1:n.-17+517C>G | |
| ENST00000692337.1:c.72C>G (MLDHR) | ENSP00000509326.1:p.Leu24= | |
| ENST00000693560.1:c.-320C>G (PTEN) | ENSP00000509861.1:n.-320C>G | |
| ENST00000371953.8:c.-840C>G (PTEN) MANE Select | ENSP00000361021.3:n.-840C>G | |
| ENST00000371953.7:c.-840C>G (PTEN) | ENSP00000361021.3:n.-840C>G | |
| ENST00000610634.1:c.-942C>G (PTEN) | ENSP00000477517.1:n.-942C>G | |
| NM_000314.5:c.-839C>G (PTEN) | NP_000305.3:n.-839C>G | |
| NM_000314.6:c.-839C>G (PTEN) | NP_000305.3:n.-839C>G | |
| NM_001304717.2:c.-320C>G (PTEN) | NP_001291646.2:n.-320C>G | |
| NM_001304718.1:c.-1544C>G (PTEN) | NP_001291647.1:n.-1544C>G | |
| NM_000314.7:c.-839C>G (PTEN) | NP_000305.3:n.-839C>G | |
| NM_001304717.5:c.-320C>G (PTEN) | NP_001291646.4:n.-320C>G | |
| NM_001304718.2:c.-1544C>G (PTEN) | NP_001291647.1:n.-1544C>G | |
| NM_000314.8:c.-840C>G (PTEN) MANE Select | NP_000305.3:n.-840C>G |