Linked Data
ClinVar Variation Id:
127663
dbSNP Id:
rs587779982
gnomAD v2:
10-89623036-G-A
gnomAD v3:
10-87863279-G-A
gnomAD v4:
10-87863279-G-A
ERepo:
CA287473/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863279G>A , CM000672.2:g.87863279G>A | GRCh38 |
| NC_000010.10:g.89623036G>A , CM000672.1:g.89623036G>A | GRCh37 |
| NC_000010.9:g.89613016G>A | NCBI36 |
| NG_007466.2:g.4842G>A , LRG_311:g.4842G>A | |
| NG_033079.1:g.5159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+637G>A (PTEN) | ENSP00000516674.1:n.-17+637G>A | |
| ENST00000688308.1:c.-17+166G>A (PTEN) | ENSP00000508752.1:n.-17+166G>A | |
| ENST00000445946.5:c.-792C>T (KLLN) MANE Select | ENSP00000392204.2:n.-792C>T | |
| ENST00000371953.7:c.-1191G>A (PTEN) | ENSP00000361021.3:n.-1191G>A | |
| ENST00000445946.3:c.-792C>T (KLLN) | ENSP00000392204.2:n.-792C>T | |
| NM_001126049.1:c.-792C>T (KLLN) | NP_001119521.1:n.-792C>T | |
| NM_001126049.2:c.-792C>T (KLLN) MANE Select | NP_001119521.1:n.-792C>T |