HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68429829C>A , CM000663.2:g.68429829C>A | GRCh38 |
NC_000001.10:g.68895512C>A , CM000663.1:g.68895512C>A | GRCh37 |
NC_000001.9:g.68668100C>A | NCBI36 |
NG_008472.1:g.25131G>T | |
NG_008472.2:g.25131G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1549G>T MANE Select | ENSP00000262340.5:p.Glu517Ter | |
ENST00000262340.5:c.1549G>T | ENSP00000262340.5:p.Glu517Ter | |
NM_000329.2:c.1549G>T | NP_000320.1:p.Glu517Ter | |
XM_017002027.1:c.1273G>T | XP_016857516.1:p.Glu425Ter | |
NM_000329.3:c.1549G>T MANE Select | NP_000320.1:p.Glu517Ter |