HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709782G>C , CM000681.2:g.6709782G>C | GRCh38 |
NC_000019.9:g.6709793G>C , CM000681.1:g.6709793G>C | GRCh37 |
NC_000019.8:g.6660793G>C | NCBI36 |
NG_009557.1:g.15870C>G , LRG_27:g.15870C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.1624C>G | ENSP00000512083.1:p.Leu542Val | |
ENST00000695654.1:c.871C>G | ENSP00000512085.1:p.Leu291Val | |
ENST00000695655.1:c.688C>G | ENSP00000512086.1:n.688C>G | |
ENST00000695692.1:n.1111C>G | ||
ENST00000245907.11:c.1747C>G MANE Select | ENSP00000245907.4:p.Leu583Val | |
ENST00000245907.10:c.1747C>G | ENSP00000245907.4:p.Leu583Val | |
ENST00000600763.1:n.380C>G | ||
NM_000064.3:c.1747C>G | NP_000055.2:p.Leu583Val | |
NM_000064.4:c.1747C>G MANE Select | NP_000055.2:p.Leu583Val |