HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717896G>C , CM000674.2:g.12717896G>C | GRCh38 |
NC_000012.11:g.12870830G>C , CM000674.1:g.12870830G>C | GRCh37 |
NC_000012.10:g.12762097G>C | NCBI36 |
NG_016341.1:g.5529G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.57G>C | ENSP00000507272.1:p.Arg19Ser | |
ENST00000682620.1:n.1631-929G>C | ||
ENST00000684771.1:n.585-929G>C | ||
ENST00000228872.9:c.57G>C MANE Select | ENSP00000228872.4:p.Arg19Ser | |
ENST00000228872.8:c.57G>C | ENSP00000228872.4:p.Arg19Ser | |
ENST00000396340.1:c.57G>C | ENSP00000379629.1:p.Arg19Ser | |
ENST00000442489.1:c.36G>C | ENSP00000407597.1:p.Arg12Ser | |
ENST00000477087.1:n.155-929G>C | ||
NM_004064.4:c.57G>C | NP_004055.1:p.Arg19Ser | |
NM_004064.5:c.57G>C MANE Select | NP_004055.1:p.Arg19Ser |