HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218812592G>C , CM000664.2:g.218812592G>C | GRCh38 |
NC_000002.11:g.219677315G>C , CM000664.1:g.219677315G>C | GRCh37 |
NC_000002.10:g.219385559G>C | NCBI36 |
NG_007959.1:g.35844G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258415.9:c.687G>C MANE Select | ENSP00000258415.4:p.Leu229= | |
ENST00000258415.8:c.687G>C | ENSP00000258415.4:p.Leu229= | |
ENST00000411688.1:c.405G>C | ENSP00000392671.1:p.Leu135= | |
ENST00000445971.1:c.*148G>C | ENSP00000404945.1:n.*148G>C | |
ENST00000466602.1:n.635G>C | ||
ENST00000494263.5:n.1121G>C | ||
NM_000784.3:c.687G>C | NP_000775.1:p.Leu229= | |
XM_017003488.2:c.267G>C | XP_016858977.1:p.Leu89= | |
NM_000784.4:c.687G>C MANE Select | NP_000775.1:p.Leu229= |