HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863337C>G , CM000672.2:g.87863337C>G | GRCh38 |
NC_000010.10:g.89623094C>G , CM000672.1:g.89623094C>G | GRCh37 |
NC_000010.9:g.89613074C>G | NCBI36 |
NG_007466.2:g.4900C>G , LRG_311:g.4900C>G | |
NG_033079.1:g.5101G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+695C>G (PTEN) | ENSP00000516674.1:n.-17+695C>G | |
ENST00000688308.1:c.-17+224C>G (PTEN) | ENSP00000508752.1:n.-17+224C>G | |
ENST00000445946.5:c.-850G>C (KLLN) MANE Select | ENSP00000392204.2:n.-850G>C | |
ENST00000371953.7:c.-1133C>G (PTEN) | ENSP00000361021.3:n.-1133C>G | |
ENST00000445946.3:c.-850G>C (KLLN) | ENSP00000392204.2:n.-850G>C | |
NM_001126049.1:c.-850G>C (KLLN) | NP_001119521.1:n.-850G>C | |
NM_001126049.2:c.-850G>C (KLLN) MANE Select | NP_001119521.1:n.-850G>C |