HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863117A= , CM000672.2:g.87863117A= | GRCh38 |
NC_000010.10:g.89622874A= , CM000672.1:g.89622874A= | GRCh37 |
NC_000010.9:g.89612854A= | NCBI36 |
NG_007466.2:g.4680A= , LRG_311:g.4680A= | |
NG_033079.1:g.5321T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+475A= (PTEN) | ENSP00000516674.1:n.-17+475A= | |
ENST00000688308.1:c.-17+4A= (PTEN) | ENSP00000508752.1:n.-17+4A= | |
ENST00000445946.5:c.-630T= (KLLN) MANE Select | ENSP00000392204.2:n.-630T= | |
ENST00000371953.7:c.-1353A= (PTEN) | ENSP00000361021.3:n.-1353A= | |
ENST00000445946.3:c.-630T= (KLLN) | ENSP00000392204.2:n.-630T= | |
NM_001126049.1:c.-630T= (KLLN) | NP_001119521.1:n.-630T= | |
NM_001126049.2:c.-630T= (KLLN) MANE Select | NP_001119521.1:n.-630T= |