Linked Data
gnomAD v4:
10-87863256-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863256C>A , CM000672.2:g.87863256C>A | GRCh38 |
| NC_000010.10:g.89623013C>A , CM000672.1:g.89623013C>A | GRCh37 |
| NC_000010.9:g.89612993C>A | NCBI36 |
| NG_007466.2:g.4819C>A , LRG_311:g.4819C>A | |
| NG_033079.1:g.5182G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+614C>A (PTEN) | ENSP00000516674.1:n.-17+614C>A | |
| ENST00000688308.1:c.-17+143C>A (PTEN) | ENSP00000508752.1:n.-17+143C>A | |
| ENST00000445946.5:c.-769G>T (KLLN) MANE Select | ENSP00000392204.2:n.-769G>T | |
| ENST00000371953.7:c.-1214C>A (PTEN) | ENSP00000361021.3:n.-1214C>A | |
| ENST00000445946.3:c.-769G>T (KLLN) | ENSP00000392204.2:n.-769G>T | |
| NM_001126049.1:c.-769G>T (KLLN) | NP_001119521.1:n.-769G>T | |
| NM_001126049.2:c.-769G>T (KLLN) MANE Select | NP_001119521.1:n.-769G>T |