HGVS | Genome Assembly |
---|---|
NC_000012.12:g.76345886G>A , CM000674.2:g.76345886G>A | GRCh38 |
NC_000012.11:g.76739666G>A , CM000674.1:g.76739666G>A | GRCh37 |
NC_000012.10:g.75263797G>A | NCBI36 |
NG_016357.1:g.7557C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650064.2:c.2099C>T MANE Select | ENSP00000497413.1:p.Thr700Ile | |
ENST00000393262.3:c.2099C>T | ENSP00000376946.3:p.Thr700Ile | |
NM_024685.3:c.2099C>T | NP_078961.3:p.Thr700Ile | |
NM_024685.4:c.2099C>T MANE Select | NP_078961.3:p.Thr700Ile |