HGVS | Genome Assembly |
---|---|
NC_000015.10:g.84840569G>C , CM000677.2:g.84840569G>C | GRCh38 |
NC_000015.9:g.85383800G>C , CM000677.1:g.85383800G>C | GRCh37 |
NC_000015.8:g.83184804G>C | NCBI36 |
NG_054748.1:g.28939G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258888.6:c.1290G>C MANE Select | ENSP00000258888.6:p.Gly430= | |
ENST00000258888.5:c.1896G>C | ENSP00000258888.5:p.Gly632= | |
NM_020778.4:c.1896G>C | NP_065829.3:p.Gly632= | |
NM_020778.5:c.1290G>C MANE Select | NP_065829.4:p.Gly430= |