HGVS | Genome Assembly |
---|---|
NC_000016.10:g.82148418C>G , CM000678.2:g.82148418C>G | GRCh38 |
NC_000016.9:g.82182023C>G , CM000678.1:g.82182023C>G | GRCh37 |
NC_000016.8:g.80739524C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258169.9:c.*313G>C MANE Select | ENSP00000258169.4:n.*313G>C | |
ENST00000258169.8:c.*313G>C | ENSP00000258169.4:n.*313G>C | |
ENST00000563100.5:c.*72+241G>C | ENSP00000454996.1:n.*72+241G>C | |
NM_005792.2:c.*313G>C MANE Select | NP_005783.2:n.*313G>C | |
XM_011522808.1:c.*313G>C | XP_011521110.1:n.*313G>C | |
XM_011522808.3:c.*313G>C | XP_011521110.1:n.*313G>C |