Linked Data
ClinVar Variation Id:
140783
dbSNP Id:
rs587779981
gnomAD v3:
10-87863299-C-A
gnomAD v4:
10-87863299-C-A
ERepo:
CA163550/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863299C>A , CM000672.2:g.87863299C>A | GRCh38 |
| NC_000010.10:g.89623056C>A , CM000672.1:g.89623056C>A | GRCh37 |
| NC_000010.9:g.89613036C>A | NCBI36 |
| NG_007466.2:g.4862C>A , LRG_311:g.4862C>A | |
| NG_033079.1:g.5139G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+657C>A (PTEN) | ENSP00000516674.1:n.-17+657C>A | |
| ENST00000688308.1:c.-17+186C>A (PTEN) | ENSP00000508752.1:n.-17+186C>A | |
| ENST00000445946.5:c.-812G>T (KLLN) MANE Select | ENSP00000392204.2:n.-812G>T | |
| ENST00000371953.7:c.-1171C>A (PTEN) | ENSP00000361021.3:n.-1171C>A | |
| ENST00000445946.3:c.-812G>T (KLLN) | ENSP00000392204.2:n.-812G>T | |
| NM_001126049.1:c.-812G>T (KLLN) | NP_001119521.1:n.-812G>T | |
| NM_001126049.2:c.-812G>T (KLLN) MANE Select | NP_001119521.1:n.-812G>T |