HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863031G>A , CM000672.2:g.87863031G>A | GRCh38 |
NC_000010.10:g.89622788G>A , CM000672.1:g.89622788G>A | GRCh37 |
NC_000010.9:g.89612768G>A | NCBI36 |
NG_007466.2:g.4594G>A , LRG_311:g.4594G>A | |
NG_033079.1:g.5407C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+389G>A (PTEN) | ENSP00000516674.1:n.-17+389G>A | |
ENST00000688308.1:c.-99G>A (PTEN) | ENSP00000508752.1:n.-99G>A | |
ENST00000445946.5:c.-544C>T (KLLN) MANE Select | ENSP00000392204.2:n.-544C>T | |
ENST00000445946.3:c.-544C>T (KLLN) | ENSP00000392204.2:n.-544C>T | |
NM_001126049.1:c.-544C>T (KLLN) | NP_001119521.1:n.-544C>T | |
NM_001126049.2:c.-544C>T (KLLN) MANE Select | NP_001119521.1:n.-544C>T |