HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218814024T>C , CM000664.2:g.218814024T>C | GRCh38 |
NC_000002.11:g.219678747T>C , CM000664.1:g.219678747T>C | GRCh37 |
NC_000002.10:g.219386991T>C | NCBI36 |
NG_007959.1:g.37276T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.1021T>C MANE Select | ENSP00000258415.4:p.Ser341Pro | |
ENST00000258415.8:c.1021T>C | ENSP00000258415.4:p.Ser341Pro | |
ENST00000445971.1:c.*482T>C | ENSP00000404945.1:n.*482T>C | |
ENST00000466602.1:n.1143T>C | ||
ENST00000494263.5:n.1455T>C | ||
NM_000784.3:c.1021T>C | NP_000775.1:p.Ser341Pro | |
XM_017003488.2:c.601T>C | XP_016858977.1:p.Ser201Pro | |
NM_000784.4:c.1021T>C MANE Select | NP_000775.1:p.Ser341Pro |