HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863386G>C , CM000672.2:g.87863386G>C | GRCh38 |
NC_000010.10:g.89623143G>C , CM000672.1:g.89623143G>C | GRCh37 |
NC_000010.9:g.89613123G>C | NCBI36 |
NG_007466.2:g.4949G>C , LRG_311:g.4949G>C | |
NG_033079.1:g.5052C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+744G>C (PTEN) | ENSP00000516674.1:n.-17+744G>C | |
ENST00000688308.1:c.-17+273G>C (PTEN) | ENSP00000508752.1:n.-17+273G>C | |
ENST00000445946.5:c.-899C>G (KLLN) MANE Select | ENSP00000392204.2:n.-899C>G | |
ENST00000371953.7:c.-1084G>C (PTEN) | ENSP00000361021.3:n.-1084G>C | |
ENST00000445946.3:c.-899C>G (KLLN) | ENSP00000392204.2:n.-899C>G | |
NM_001126049.1:c.-899C>G (KLLN) | NP_001119521.1:n.-899C>G | |
NM_001126049.2:c.-899C>G (KLLN) MANE Select | NP_001119521.1:n.-899C>G |