Linked Data
ClinVar Variation Id:
488754
ClinVar RCV Id:
RCV000579247
dbSNP Id:
rs1402112165
gnomAD v2:
10-89622931-G-T
gnomAD v3:
10-87863174-G-T
gnomAD v4:
10-87863174-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863174G>T , CM000672.2:g.87863174G>T | GRCh38 |
| NC_000010.10:g.89622931G>T , CM000672.1:g.89622931G>T | GRCh37 |
| NC_000010.9:g.89612911G>T | NCBI36 |
| NG_007466.2:g.4737G>T , LRG_311:g.4737G>T | |
| NG_033079.1:g.5264C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+532G>T (PTEN) | ENSP00000516674.1:n.-17+532G>T | |
| ENST00000688308.1:c.-17+61G>T (PTEN) | ENSP00000508752.1:n.-17+61G>T | |
| ENST00000445946.5:c.-687C>A (KLLN) MANE Select | ENSP00000392204.2:n.-687C>A | |
| ENST00000371953.7:c.-1296G>T (PTEN) | ENSP00000361021.3:n.-1296G>T | |
| ENST00000445946.3:c.-687C>A (KLLN) | ENSP00000392204.2:n.-687C>A | |
| NM_001126049.1:c.-687C>A (KLLN) | NP_001119521.1:n.-687C>A | |
| NM_001126049.2:c.-687C>A (KLLN) MANE Select | NP_001119521.1:n.-687C>A |