HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717885A>C , CM000674.2:g.12717885A>C | GRCh38 |
NC_000012.11:g.12870819A>C , CM000674.1:g.12870819A>C | GRCh37 |
NC_000012.10:g.12762086A>C | NCBI36 |
NG_016341.1:g.5518A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.46A>C | ENSP00000507272.1:p.Met16Leu | |
ENST00000682620.1:n.1631-940A>C | ||
ENST00000684771.1:n.585-940A>C | ||
ENST00000228872.9:c.46A>C MANE Select | ENSP00000228872.4:p.Met16Leu | |
ENST00000228872.8:c.46A>C | ENSP00000228872.4:p.Met16Leu | |
ENST00000396340.1:c.46A>C | ENSP00000379629.1:p.Met16Leu | |
ENST00000442489.1:c.25A>C | ENSP00000407597.1:p.Met9Leu | |
ENST00000477087.1:n.155-940A>C | ||
NM_004064.4:c.46A>C | NP_004055.1:p.Met16Leu | |
NM_004064.5:c.46A>C MANE Select | NP_004055.1:p.Met16Leu |