HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863380G>A , CM000672.2:g.87863380G>A | GRCh38 |
NC_000010.10:g.89623137G>A , CM000672.1:g.89623137G>A | GRCh37 |
NC_000010.9:g.89613117G>A | NCBI36 |
NG_007466.2:g.4943G>A , LRG_311:g.4943G>A | |
NG_033079.1:g.5058C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+738G>A (PTEN) | ENSP00000516674.1:n.-17+738G>A | |
ENST00000688308.1:c.-17+267G>A (PTEN) | ENSP00000508752.1:n.-17+267G>A | |
ENST00000445946.5:c.-893C>T (KLLN) MANE Select | ENSP00000392204.2:n.-893C>T | |
ENST00000371953.7:c.-1090G>A (PTEN) | ENSP00000361021.3:n.-1090G>A | |
ENST00000445946.3:c.-893C>T (KLLN) | ENSP00000392204.2:n.-893C>T | |
NM_001126049.1:c.-893C>T (KLLN) | NP_001119521.1:n.-893C>T | |
NM_001126049.2:c.-893C>T (KLLN) MANE Select | NP_001119521.1:n.-893C>T |