HGVS | Genome Assembly |
---|---|
NC_000012.12:g.76347088T>C , CM000674.2:g.76347088T>C | GRCh38 |
NC_000012.11:g.76740868T>C , CM000674.1:g.76740868T>C | GRCh37 |
NC_000012.10:g.75264999T>C | NCBI36 |
NG_016357.1:g.6355A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650064.2:c.897A>G MANE Select | ENSP00000497413.1:p.Lys299= | |
ENST00000393262.3:c.897A>G | ENSP00000376946.3:p.Lys299= | |
NM_024685.3:c.897A>G | NP_078961.3:p.Lys299= | |
NM_024685.4:c.897A>G MANE Select | NP_078961.3:p.Lys299= |