HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863331A= , CM000672.2:g.87863331A= | GRCh38 |
NC_000010.10:g.89623088A= , CM000672.1:g.89623088A= | GRCh37 |
NC_000010.9:g.89613068A= | NCBI36 |
NG_007466.2:g.4894A= , LRG_311:g.4894A= | |
NG_033079.1:g.5107T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+689A= (PTEN) | ENSP00000516674.1:n.-17+689A= | |
ENST00000688308.1:c.-17+218A= (PTEN) | ENSP00000508752.1:n.-17+218A= | |
ENST00000445946.5:c.-844T= (KLLN) MANE Select | ENSP00000392204.2:n.-844T= | |
ENST00000371953.7:c.-1139A= (PTEN) | ENSP00000361021.3:n.-1139A= | |
ENST00000445946.3:c.-844T= (KLLN) | ENSP00000392204.2:n.-844T= | |
NM_001126049.1:c.-844T= (KLLN) | NP_001119521.1:n.-844T= | |
NM_001126049.2:c.-844T= (KLLN) MANE Select | NP_001119521.1:n.-844T= |