HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863115T= , CM000672.2:g.87863115T= | GRCh38 |
NC_000010.10:g.89622872T= , CM000672.1:g.89622872T= | GRCh37 |
NC_000010.9:g.89612852T= | NCBI36 |
NG_007466.2:g.4678T= , LRG_311:g.4678T= | |
NG_033079.1:g.5323A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+473T= (PTEN) | ENSP00000516674.1:n.-17+473T= | |
ENST00000688308.1:c.-17+2T= (PTEN) | ENSP00000508752.1:n.-17+2T= | |
ENST00000445946.5:c.-628A= (KLLN) MANE Select | ENSP00000392204.2:n.-628A= | |
ENST00000371953.7:c.-1355T= (PTEN) | ENSP00000361021.3:n.-1355T= | |
ENST00000445946.3:c.-628A= (KLLN) | ENSP00000392204.2:n.-628A= | |
NM_001126049.1:c.-628A= (KLLN) | NP_001119521.1:n.-628A= | |
NM_001126049.2:c.-628A= (KLLN) MANE Select | NP_001119521.1:n.-628A= |