Linked Data
ClinVar Variation Id:
488903
ClinVar RCV Id:
RCV000590579
dbSNP Id:
rs1465513356
gnomAD v2:
10-89623273-C-G
gnomAD v3:
10-87863516-C-G
gnomAD v4:
10-87863516-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863516C>G , CM000672.2:g.87863516C>G | GRCh38 |
| NC_000010.10:g.89623273C>G , CM000672.1:g.89623273C>G | GRCh37 |
| NC_000010.9:g.89613253C>G | NCBI36 |
| NG_007466.2:g.5079C>G , LRG_311:g.5079C>G | |
| NG_033079.1:g.4922G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+874C>G (PTEN) | ENSP00000516674.1:n.-17+874C>G | |
| ENST00000688308.1:c.-17+403C>G (PTEN) | ENSP00000508752.1:n.-17+403C>G | |
| ENST00000693560.1:c.-434C>G (PTEN) | ENSP00000509861.1:n.-434C>G | |
| ENST00000445946.5:c.-1029G>C (KLLN) MANE Select | ENSP00000392204.2:n.-1029G>C | |
| ENST00000371953.7:c.-954C>G (PTEN) | ENSP00000361021.3:n.-954C>G | |
| ENST00000610634.1:c.-1056C>G (PTEN) | ENSP00000477517.1:n.-1056C>G | |
| NM_000314.5:c.-953C>G (PTEN) | NP_000305.3:n.-953C>G | |
| NM_000314.6:c.-953C>G (PTEN) | NP_000305.3:n.-953C>G | |
| NM_001304717.2:c.-434C>G (PTEN) | NP_001291646.2:n.-434C>G | |
| NM_001304718.1:c.-1658C>G (PTEN) | NP_001291647.1:n.-1658C>G | |
| NM_001126049.2:c.-1029G>C (KLLN) MANE Select | NP_001119521.1:n.-1029G>C |