Linked Data
ClinVar Variation Id:
127660
ClinVar RCV Id:
RCV000115555
RCV000201312
RCV000229583
RCV000586614
RCV000662713
RCV003654199
RCV002498494
dbSNP Id:
rs538728843
gnomAD v2:
10-89623142-C-T
gnomAD v3:
10-87863385-C-T
gnomAD v4:
10-87863385-C-T
ERepo:
CA151479/MONDO:0017623/003
PubMed:
PMID:27878467
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863385C>T , CM000672.2:g.87863385C>T | GRCh38 |
| NC_000010.10:g.89623142C>T , CM000672.1:g.89623142C>T | GRCh37 |
| NC_000010.9:g.89613122C>T | NCBI36 |
| NG_007466.2:g.4948C>T , LRG_311:g.4948C>T | |
| NG_033079.1:g.5053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+743C>T (PTEN) | ENSP00000516674.1:n.-17+743C>T | |
| ENST00000688308.1:c.-17+272C>T (PTEN) | ENSP00000508752.1:n.-17+272C>T | |
| ENST00000445946.5:c.-898G>A (KLLN) MANE Select | ENSP00000392204.2:n.-898G>A | |
| ENST00000371953.7:c.-1085C>T (PTEN) | ENSP00000361021.3:n.-1085C>T | |
| ENST00000445946.3:c.-898G>A (KLLN) | ENSP00000392204.2:n.-898G>A | |
| NM_001126049.1:c.-898G>A (KLLN) | NP_001119521.1:n.-898G>A | |
| NM_001126049.2:c.-898G>A (KLLN) MANE Select | NP_001119521.1:n.-898G>A |