HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863037C>G , CM000672.2:g.87863037C>G | GRCh38 |
NC_000010.10:g.89622794C>G , CM000672.1:g.89622794C>G | GRCh37 |
NC_000010.9:g.89612774C>G | NCBI36 |
NG_007466.2:g.4600C>G , LRG_311:g.4600C>G | |
NG_033079.1:g.5401G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+395C>G (PTEN) | ENSP00000516674.1:n.-17+395C>G | |
ENST00000688308.1:c.-93C>G (PTEN) | ENSP00000508752.1:n.-93C>G | |
ENST00000445946.5:c.-550G>C (KLLN) MANE Select | ENSP00000392204.2:n.-550G>C | |
ENST00000445946.3:c.-550G>C (KLLN) | ENSP00000392204.2:n.-550G>C | |
NM_001126049.1:c.-550G>C (KLLN) | NP_001119521.1:n.-550G>C | |
NM_001126049.2:c.-550G>C (KLLN) MANE Select | NP_001119521.1:n.-550G>C |