HGVS | Genome Assembly |
---|---|
NC_000012.12:g.76347149G>T , CM000674.2:g.76347149G>T | GRCh38 |
NC_000012.11:g.76740929G>T , CM000674.1:g.76740929G>T | GRCh37 |
NC_000012.10:g.75265060G>T | NCBI36 |
NG_016357.1:g.6294C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650064.2:c.836C>A MANE Select | ENSP00000497413.1:p.Ser279Ter | |
ENST00000393262.3:c.836C>A | ENSP00000376946.3:p.Ser279Ter | |
NM_024685.3:c.836C>A | NP_078961.3:p.Ser279Ter | |
NM_024685.4:c.836C>A MANE Select | NP_078961.3:p.Ser279Ter |