Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863158T>C , CM000672.2:g.87863158T>C | GRCh38 |
| NC_000010.10:g.89622915T>C , CM000672.1:g.89622915T>C | GRCh37 |
| NC_000010.9:g.89612895T>C | NCBI36 |
| NG_007466.2:g.4721T>C , LRG_311:g.4721T>C | |
| NG_033079.1:g.5280A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001126049.2:c.-671A>G (KLLN) MANE Select | NP_001119521.1:n.-671A>G |
| ENST00000445946.5:c.-671A>G (KLLN) MANE Select | ENSP00000392204.2:n.-671A>G |
| NM_001126049.1:c.-671A>G (KLLN) | NP_001119521.1:n.-671A>G |
| ENST00000371953.7:c.-1312T>C (PTEN) | ENSP00000361021.3:n.-1312T>C |
| ENST00000445946.3:c.-671A>G (KLLN) | ENSP00000392204.2:n.-671A>G |
| ENST00000688308.1:c.-17+45T>C (PTEN) | ENSP00000508752.1:n.-17+45T>C |
| ENST00000706954.1:c.-17+516T>C (PTEN) | ENSP00000516674.1:n.-17+516T>C |