HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863190C>G , CM000672.2:g.87863190C>G | GRCh38 |
NC_000010.10:g.89622947C>G , CM000672.1:g.89622947C>G | GRCh37 |
NC_000010.9:g.89612927C>G | NCBI36 |
NG_007466.2:g.4753C>G , LRG_311:g.4753C>G | |
NG_033079.1:g.5248G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+548C>G (PTEN) | ENSP00000516674.1:n.-17+548C>G | |
ENST00000688308.1:c.-17+77C>G (PTEN) | ENSP00000508752.1:n.-17+77C>G | |
ENST00000445946.5:c.-703G>C (KLLN) MANE Select | ENSP00000392204.2:n.-703G>C | |
ENST00000371953.7:c.-1280C>G (PTEN) | ENSP00000361021.3:n.-1280C>G | |
ENST00000445946.3:c.-703G>C (KLLN) | ENSP00000392204.2:n.-703G>C | |
NM_001126049.1:c.-703G>C (KLLN) | NP_001119521.1:n.-703G>C | |
NM_001126049.2:c.-703G>C (KLLN) MANE Select | NP_001119521.1:n.-703G>C |