Linked Data
dbSNP Id:
rs1278941168
gnomAD v2:
10-89622784-G-C
gnomAD v3:
10-87863027-G-C
gnomAD v4:
10-87863027-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863027G>C , CM000672.2:g.87863027G>C | GRCh38 |
| NC_000010.10:g.89622784G>C , CM000672.1:g.89622784G>C | GRCh37 |
| NC_000010.9:g.89612764G>C | NCBI36 |
| NG_007466.2:g.4590G>C , LRG_311:g.4590G>C | |
| NG_033079.1:g.5411C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+385G>C (PTEN) | ENSP00000516674.1:n.-17+385G>C | |
| ENST00000688308.1:c.-103G>C (PTEN) | ENSP00000508752.1:n.-103G>C | |
| ENST00000445946.5:c.-540C>G (KLLN) MANE Select | ENSP00000392204.2:n.-540C>G | |
| ENST00000445946.3:c.-540C>G (KLLN) | ENSP00000392204.2:n.-540C>G | |
| NM_001126049.1:c.-540C>G (KLLN) | NP_001119521.1:n.-540C>G | |
| NM_001126049.2:c.-540C>G (KLLN) MANE Select | NP_001119521.1:n.-540C>G |