Linked Data
ClinVar Variation Id:
488901
ClinVar RCV Id:
RCV000578691
dbSNP Id:
rs1289454008
gnomAD v2:
10-89622945-C-T
gnomAD v3:
10-87863188-C-T
gnomAD v4:
10-87863188-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863188C>T , CM000672.2:g.87863188C>T | GRCh38 |
| NC_000010.10:g.89622945C>T , CM000672.1:g.89622945C>T | GRCh37 |
| NC_000010.9:g.89612925C>T | NCBI36 |
| NG_007466.2:g.4751C>T , LRG_311:g.4751C>T | |
| NG_033079.1:g.5250G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+546C>T (PTEN) | ENSP00000516674.1:n.-17+546C>T | |
| ENST00000688308.1:c.-17+75C>T (PTEN) | ENSP00000508752.1:n.-17+75C>T | |
| ENST00000445946.5:c.-701G>A (KLLN) MANE Select | ENSP00000392204.2:n.-701G>A | |
| ENST00000371953.7:c.-1282C>T (PTEN) | ENSP00000361021.3:n.-1282C>T | |
| ENST00000445946.3:c.-701G>A (KLLN) | ENSP00000392204.2:n.-701G>A | |
| NM_001126049.1:c.-701G>A (KLLN) | NP_001119521.1:n.-701G>A | |
| NM_001126049.2:c.-701G>A (KLLN) MANE Select | NP_001119521.1:n.-701G>A |