HGVS | Genome Assembly |
---|---|
NC_000006.12:g.10982300G>T , CM000668.2:g.10982300G>T | GRCh38 |
NC_000006.11:g.10982533G>T , CM000668.1:g.10982533G>T | GRCh37 |
NC_000006.10:g.11090519G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000354666.4:c.*1481C>A MANE Select | ENSP00000346693.3:n.*1481C>A | |
ENST00000354666.3:c.*1481C>A | ENSP00000346693.3:n.*1481C>A | |
NM_017770.3:c.*1481C>A | NP_060240.3:n.*1481C>A | |
XM_011514716.1:c.*1481C>A | XP_011513018.1:n.*1481C>A | |
XM_011514717.1:c.*1481C>A | XP_011513019.1:n.*1481C>A | |
XM_011514716.3:c.*1481C>A | XP_011513018.1:n.*1481C>A | |
NM_017770.4:c.*1481C>A MANE Select | NP_060240.3:n.*1481C>A |