Linked Data
ClinVar Variation Id:
488860
ClinVar RCV Id:
RCV000578839
dbSNP Id:
rs1297788990
gnomAD v2:
10-89622919-C-T
gnomAD v3:
10-87863162-C-T
gnomAD v4:
10-87863162-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863162C>T , CM000672.2:g.87863162C>T | GRCh38 |
| NC_000010.10:g.89622919C>T , CM000672.1:g.89622919C>T | GRCh37 |
| NC_000010.9:g.89612899C>T | NCBI36 |
| NG_007466.2:g.4725C>T , LRG_311:g.4725C>T | |
| NG_033079.1:g.5276G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+520C>T (PTEN) | ENSP00000516674.1:n.-17+520C>T | |
| ENST00000688308.1:c.-17+49C>T (PTEN) | ENSP00000508752.1:n.-17+49C>T | |
| ENST00000445946.5:c.-675G>A (KLLN) MANE Select | ENSP00000392204.2:n.-675G>A | |
| ENST00000371953.7:c.-1308C>T (PTEN) | ENSP00000361021.3:n.-1308C>T | |
| ENST00000445946.3:c.-675G>A (KLLN) | ENSP00000392204.2:n.-675G>A | |
| NM_001126049.1:c.-675G>A (KLLN) | NP_001119521.1:n.-675G>A | |
| NM_001126049.2:c.-675G>A (KLLN) MANE Select | NP_001119521.1:n.-675G>A |