Linked Data
ClinVar Variation Id:
488776
ClinVar RCV Id:
RCV000578730
dbSNP Id:
rs954664586
gnomAD v3:
10-87863229-A-C
gnomAD v4:
10-87863229-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863229A>C , CM000672.2:g.87863229A>C | GRCh38 |
| NC_000010.10:g.89622986A>C , CM000672.1:g.89622986A>C | GRCh37 |
| NC_000010.9:g.89612966A>C | NCBI36 |
| NG_007466.2:g.4792A>C , LRG_311:g.4792A>C | |
| NG_033079.1:g.5209T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+587A>C (PTEN) | ENSP00000516674.1:n.-17+587A>C | |
| ENST00000688308.1:c.-17+116A>C (PTEN) | ENSP00000508752.1:n.-17+116A>C | |
| ENST00000445946.5:c.-742T>G (KLLN) MANE Select | ENSP00000392204.2:n.-742T>G | |
| ENST00000371953.7:c.-1241A>C (PTEN) | ENSP00000361021.3:n.-1241A>C | |
| ENST00000445946.3:c.-742T>G (KLLN) | ENSP00000392204.2:n.-742T>G | |
| NM_001126049.1:c.-742T>G (KLLN) | NP_001119521.1:n.-742T>G | |
| NM_001126049.2:c.-742T>G (KLLN) MANE Select | NP_001119521.1:n.-742T>G |