HGVS | Genome Assembly |
---|---|
NC_000004.12:g.71030342G>A , CM000666.2:g.71030342G>A | GRCh38 |
NC_000004.11:g.71896059G>A , CM000666.1:g.71896059G>A | GRCh37 |
NC_000004.10:g.72114923G>A | NCBI36 |
NG_023303.1:g.41795G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286648.10:c.*964G>A MANE Select | ENSP00000286648.5:n.*964G>A | |
ENST00000286648.9:c.*964G>A | ENSP00000286648.5:n.*964G>A | |
ENST00000503359.5:c.*1691G>A | ENSP00000426389.1:n.*1691G>A | |
ENST00000504730.5:c.*1031G>A | ENSP00000425578.1:n.*1031G>A | |
ENST00000504952.1:c.*890G>A | ENSP00000421508.1:n.*890G>A | |
NM_000788.2:c.*964G>A | NP_000779.1:n.*964G>A | |
NM_000788.3:c.*964G>A MANE Select | NP_000779.1:n.*964G>A |