HGVS | Genome Assembly |
---|---|
NC_000012.12:g.76346431T= , CM000674.2:g.76346431T= | GRCh38 |
NC_000012.11:g.76740211T= , CM000674.1:g.76740211T= | GRCh37 |
NC_000012.10:g.75264342T= | NCBI36 |
NG_016357.1:g.7012A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650064.2:c.1554A= MANE Select | ENSP00000497413.1:p.Gln518= | |
ENST00000393262.3:c.1554A= | ENSP00000376946.3:p.Gln518= | |
NM_024685.3:c.1554A= | NP_078961.3:p.Gln518= | |
NM_024685.4:c.1554A= MANE Select | NP_078961.3:p.Gln518= |