HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87863035T>G , CM000672.2:g.87863035T>G | GRCh38 |
NC_000010.10:g.89622792T>G , CM000672.1:g.89622792T>G | GRCh37 |
NC_000010.9:g.89612772T>G | NCBI36 |
NG_007466.2:g.4598T>G , LRG_311:g.4598T>G | |
NG_033079.1:g.5403A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706954.1:c.-17+393T>G (PTEN) | ENSP00000516674.1:n.-17+393T>G | |
ENST00000688308.1:c.-95T>G (PTEN) | ENSP00000508752.1:n.-95T>G | |
ENST00000445946.5:c.-548A>C (KLLN) MANE Select | ENSP00000392204.2:n.-548A>C | |
ENST00000445946.3:c.-548A>C (KLLN) | ENSP00000392204.2:n.-548A>C | |
NM_001126049.1:c.-548A>C (KLLN) | NP_001119521.1:n.-548A>C | |
NM_001126049.2:c.-548A>C (KLLN) MANE Select | NP_001119521.1:n.-548A>C |