Linked Data
ClinVar Variation Id:
503638
ClinVar RCV Id:
RCV000599225
dbSNP Id:
rs1554889769
gnomAD v4:
10-87863145-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863145C>A , CM000672.2:g.87863145C>A | GRCh38 |
| NC_000010.10:g.89622902C>A , CM000672.1:g.89622902C>A | GRCh37 |
| NC_000010.9:g.89612882C>A | NCBI36 |
| NG_007466.2:g.4708C>A , LRG_311:g.4708C>A | |
| NG_033079.1:g.5293G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+503C>A (PTEN) | ENSP00000516674.1:n.-17+503C>A | |
| ENST00000688308.1:c.-17+32C>A (PTEN) | ENSP00000508752.1:n.-17+32C>A | |
| ENST00000445946.5:c.-658G>T (KLLN) MANE Select | ENSP00000392204.2:n.-658G>T | |
| ENST00000371953.7:c.-1325C>A (PTEN) | ENSP00000361021.3:n.-1325C>A | |
| ENST00000445946.3:c.-658G>T (KLLN) | ENSP00000392204.2:n.-658G>T | |
| NM_001126049.1:c.-658G>T (KLLN) | NP_001119521.1:n.-658G>T | |
| NM_001126049.2:c.-658G>T (KLLN) MANE Select | NP_001119521.1:n.-658G>T |