Linked Data
ClinVar Variation Id:
503639
ClinVar RCV Id:
RCV000598652
dbSNP Id:
rs1042847417
gnomAD v4:
10-87863203-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863203C>A , CM000672.2:g.87863203C>A | GRCh38 |
| NC_000010.10:g.89622960C>A , CM000672.1:g.89622960C>A | GRCh37 |
| NC_000010.9:g.89612940C>A | NCBI36 |
| NG_007466.2:g.4766C>A , LRG_311:g.4766C>A | |
| NG_033079.1:g.5235G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+561C>A (PTEN) | ENSP00000516674.1:n.-17+561C>A | |
| ENST00000688308.1:c.-17+90C>A (PTEN) | ENSP00000508752.1:n.-17+90C>A | |
| ENST00000445946.5:c.-716G>T (KLLN) MANE Select | ENSP00000392204.2:n.-716G>T | |
| ENST00000371953.7:c.-1267C>A (PTEN) | ENSP00000361021.3:n.-1267C>A | |
| ENST00000445946.3:c.-716G>T (KLLN) | ENSP00000392204.2:n.-716G>T | |
| NM_001126049.1:c.-716G>T (KLLN) | NP_001119521.1:n.-716G>T | |
| NM_001126049.2:c.-716G>T (KLLN) MANE Select | NP_001119521.1:n.-716G>T |