HGVS | Genome Assembly |
---|---|
NC_000004.12:g.71030405G>C , CM000666.2:g.71030405G>C | GRCh38 |
NC_000004.11:g.71896122G>C , CM000666.1:g.71896122G>C | GRCh37 |
NC_000004.10:g.72114986G>C | NCBI36 |
NG_023303.1:g.41858G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286648.10:c.*1027G>C MANE Select | ENSP00000286648.5:n.*1027G>C | |
ENST00000286648.9:c.*1027G>C | ENSP00000286648.5:n.*1027G>C | |
ENST00000503359.5:c.*1754G>C | ENSP00000426389.1:n.*1754G>C | |
ENST00000504730.5:c.*1094G>C | ENSP00000425578.1:n.*1094G>C | |
ENST00000504952.1:c.*953G>C | ENSP00000421508.1:n.*953G>C | |
NM_000788.2:c.*1027G>C | NP_000779.1:n.*1027G>C | |
NM_000788.3:c.*1027G>C MANE Select | NP_000779.1:n.*1027G>C |