HGVS | Genome Assembly |
---|---|
NC_000016.10:g.82148399G>A , CM000678.2:g.82148399G>A | GRCh38 |
NC_000016.9:g.82182004G>A , CM000678.1:g.82182004G>A | GRCh37 |
NC_000016.8:g.80739505G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258169.9:c.*332C>T MANE Select | ENSP00000258169.4:n.*332C>T | |
ENST00000258169.8:c.*332C>T | ENSP00000258169.4:n.*332C>T | |
ENST00000563100.5:c.*72+260C>T | ENSP00000454996.1:n.*72+260C>T | |
NM_005792.2:c.*332C>T MANE Select | NP_005783.2:n.*332C>T | |
XM_011522808.1:c.*332C>T | XP_011521110.1:n.*332C>T | |
XM_011522808.3:c.*332C>T | XP_011521110.1:n.*332C>T |