HGVS | Genome Assembly |
---|---|
NC_000015.10:g.84840419C>A , CM000677.2:g.84840419C>A | GRCh38 |
NC_000015.9:g.85383650C>A , CM000677.1:g.85383650C>A | GRCh37 |
NC_000015.8:g.83184654C>A | NCBI36 |
NG_054748.1:g.28789C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258888.6:c.1140C>A MANE Select | ENSP00000258888.6:p.Ser380= | |
ENST00000258888.5:c.1746C>A | ENSP00000258888.5:p.Ser582= | |
NM_020778.4:c.1746C>A | NP_065829.3:p.Ser582= | |
NM_020778.5:c.1140C>A MANE Select | NP_065829.4:p.Ser380= |