HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863188C>A , CM000672.2:g.87863188C>A | GRCh38 |
NC_000010.10:g.89622945C>A , CM000672.1:g.89622945C>A | GRCh37 |
NC_000010.9:g.89612925C>A | NCBI36 |
NG_007466.2:g.4751C>A , LRG_311:g.4751C>A | |
NG_033079.1:g.5250G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+546C>A (PTEN) | ENSP00000516674.1:n.-17+546C>A | |
ENST00000688308.1:c.-17+75C>A (PTEN) | ENSP00000508752.1:n.-17+75C>A | |
ENST00000445946.5:c.-701G>T (KLLN) MANE Select | ENSP00000392204.2:n.-701G>T | |
ENST00000371953.7:c.-1282C>A (PTEN) | ENSP00000361021.3:n.-1282C>A | |
ENST00000445946.3:c.-701G>T (KLLN) | ENSP00000392204.2:n.-701G>T | |
NM_001126049.1:c.-701G>T (KLLN) | NP_001119521.1:n.-701G>T | |
NM_001126049.2:c.-701G>T (KLLN) MANE Select | NP_001119521.1:n.-701G>T |