HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709716G>C , CM000681.2:g.6709716G>C | GRCh38 |
NC_000019.9:g.6709727G>C , CM000681.1:g.6709727G>C | GRCh37 |
NC_000019.8:g.6660727G>C | NCBI36 |
NG_009557.1:g.15936C>G , LRG_27:g.15936C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.1690C>G | ENSP00000512083.1:p.Leu564Val | |
ENST00000695654.1:c.937C>G | ENSP00000512085.1:p.Leu313Val | |
ENST00000695655.1:c.754C>G | ENSP00000512086.1:n.754C>G | |
ENST00000695692.1:n.1177C>G | ||
ENST00000245907.11:c.1813C>G MANE Select | ENSP00000245907.4:p.Leu605Val | |
ENST00000245907.10:c.1813C>G | ENSP00000245907.4:p.Leu605Val | |
NM_000064.3:c.1813C>G | NP_000055.2:p.Leu605Val | |
NM_000064.4:c.1813C>G MANE Select | NP_000055.2:p.Leu605Val |