HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863355G>C , CM000672.2:g.87863355G>C | GRCh38 |
NC_000010.10:g.89623112G>C , CM000672.1:g.89623112G>C | GRCh37 |
NC_000010.9:g.89613092G>C | NCBI36 |
NG_007466.2:g.4918G>C , LRG_311:g.4918G>C | |
NG_033079.1:g.5083C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000706954.1:c.-17+713G>C (PTEN) | ENSP00000516674.1:n.-17+713G>C | |
ENST00000688308.1:c.-17+242G>C (PTEN) | ENSP00000508752.1:n.-17+242G>C | |
ENST00000445946.5:c.-868C>G (KLLN) MANE Select | ENSP00000392204.2:n.-868C>G | |
ENST00000371953.7:c.-1115G>C (PTEN) | ENSP00000361021.3:n.-1115G>C | |
ENST00000445946.3:c.-868C>G (KLLN) | ENSP00000392204.2:n.-868C>G | |
NM_001126049.1:c.-868C>G (KLLN) | NP_001119521.1:n.-868C>G | |
NM_001126049.2:c.-868C>G (KLLN) MANE Select | NP_001119521.1:n.-868C>G |