HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586475C>G , CM000673.2:g.67586475C>G | GRCh38 |
NC_000011.9:g.67353946C>G , CM000673.1:g.67353946C>G | GRCh37 |
NC_000011.8:g.67110522C>G | NCBI36 |
NG_012075.1:g.7881C>G , LRG_723:g.7881C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.423C>G | ENSP00000381604.1:p.Leu141= | |
ENST00000398606.10:c.531C>G MANE Select | ENSP00000381607.3:p.Leu177= | |
ENST00000646888.1:c.*247C>G | ENSP00000494477.1:n.*247C>G | |
ENST00000398603.5:c.423C>G | ENSP00000381604.1:p.Leu141= | |
ENST00000398606.7:c.531C>G | ENSP00000381607.3:p.Leu177= | |
ENST00000467591.1:n.642C>G | ||
ENST00000494593.1:n.1503C>G | ||
ENST00000498765.5:c.594C>G | ||
NM_000852.3:c.531C>G , LRG_723t1:c.531C>G | NP_000843.1:p.Leu177= | |
NM_000852.4:c.531C>G MANE Select | NP_000843.1:p.Leu177= |