HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218814031C= , CM000664.2:g.218814031C= | GRCh38 |
NC_000002.11:g.219678754C= , CM000664.1:g.219678754C= | GRCh37 |
NC_000002.10:g.219386998C= | NCBI36 |
NG_007959.1:g.37283C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.1028C= MANE Select | ENSP00000258415.4:p.Thr343= | |
ENST00000258415.8:c.1028C= | ENSP00000258415.4:p.Thr343= | |
ENST00000445971.1:c.*489C= | ENSP00000404945.1:n.*489C= | |
ENST00000466602.1:n.1150C= | ||
ENST00000494263.5:n.1462C= | ||
NM_000784.3:c.1028C= | NP_000775.1:p.Thr343= | |
XM_017003488.2:c.608C= | XP_016858977.1:p.Thr203= | |
NM_000784.4:c.1028C= MANE Select | NP_000775.1:p.Thr343= |