Linked Data
dbSNP Id:
rs1413403956
gnomAD v2:
10-89623218-C-A
gnomAD v3:
10-87863461-C-A
gnomAD v4:
10-87863461-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863461C>A , CM000672.2:g.87863461C>A | GRCh38 |
| NC_000010.10:g.89623218C>A , CM000672.1:g.89623218C>A | GRCh37 |
| NC_000010.9:g.89613198C>A | NCBI36 |
| NG_007466.2:g.5024C>A , LRG_311:g.5024C>A | |
| NG_033079.1:g.4977G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+819C>A (PTEN) | ENSP00000516674.1:n.-17+819C>A | |
| ENST00000688308.1:c.-17+348C>A (PTEN) | ENSP00000508752.1:n.-17+348C>A | |
| ENST00000693560.1:c.-489C>A (PTEN) | ENSP00000509861.1:n.-489C>A | |
| ENST00000445946.5:c.-974G>T (KLLN) MANE Select | ENSP00000392204.2:n.-974G>T | |
| ENST00000371953.7:c.-1009C>A (PTEN) | ENSP00000361021.3:n.-1009C>A | |
| ENST00000610634.1:c.-1111C>A (PTEN) | ENSP00000477517.1:n.-1111C>A | |
| NM_000314.5:c.-1008C>A (PTEN) | NP_000305.3:n.-1008C>A | |
| NM_000314.6:c.-1008C>A (PTEN) | NP_000305.3:n.-1008C>A | |
| NM_001304717.2:c.-489C>A (PTEN) | NP_001291646.2:n.-489C>A | |
| NM_001304718.1:c.-1713C>A (PTEN) | NP_001291647.1:n.-1713C>A | |
| NM_001126049.2:c.-974G>T (KLLN) MANE Select | NP_001119521.1:n.-974G>T |