HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74754883T>A , CM000677.2:g.74754883T>A | GRCh38 |
NC_000015.9:g.75047224T>A , CM000677.1:g.75047224T>A | GRCh37 |
NC_000015.8:g.72834277T>A | NCBI36 |
NG_008431.1:g.37342T>A | |
NG_008431.2:g.37342T>A | |
NG_061543.1:g.11039T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.1346T>A MANE Select | ENSP00000342007.4:p.Met449Lys | |
ENST00000343932.4:c.1346T>A | ENSP00000342007.4:p.Met449Lys | |
NM_000761.4:c.1346T>A | NP_000752.2:p.Met449Lys | |
NM_000761.5:c.1346T>A MANE Select | NP_000752.2:p.Met449Lys |