Linked Data
dbSNP Id:
rs1258072724
gnomAD v2:
10-89622805-G-A
gnomAD v3:
10-87863048-G-A
gnomAD v4:
10-87863048-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863048G>A , CM000672.2:g.87863048G>A | GRCh38 |
| NC_000010.10:g.89622805G>A , CM000672.1:g.89622805G>A | GRCh37 |
| NC_000010.9:g.89612785G>A | NCBI36 |
| NG_007466.2:g.4611G>A , LRG_311:g.4611G>A | |
| NG_033079.1:g.5390C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+406G>A (PTEN) | ENSP00000516674.1:n.-17+406G>A | |
| ENST00000688308.1:c.-82G>A (PTEN) | ENSP00000508752.1:n.-82G>A | |
| ENST00000445946.5:c.-561C>T (KLLN) MANE Select | ENSP00000392204.2:n.-561C>T | |
| ENST00000445946.3:c.-561C>T (KLLN) | ENSP00000392204.2:n.-561C>T | |
| NM_001126049.1:c.-561C>T (KLLN) | NP_001119521.1:n.-561C>T | |
| NM_001126049.2:c.-561C>T (KLLN) MANE Select | NP_001119521.1:n.-561C>T |