HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186083061T>C , CM000666.2:g.186083061T>C | GRCh38 |
NC_000004.11:g.187004215T>C , CM000666.1:g.187004215T>C | GRCh37 |
NC_000004.10:g.187241209T>C | NCBI36 |
NG_007278.1:g.18907T>C , LRG_117:g.18907T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000508051.2:c.544T>C | ENSP00000513677.1:p.Phe182Leu | |
ENST00000698351.1:c.864+511T>C | ENSP00000513674.1:n.864+511T>C | |
ENST00000698352.1:c.*927T>C | ENSP00000513675.1:n.*927T>C | |
ENST00000698353.1:n.1250T>C | ||
ENST00000698354.1:c.544T>C | ENSP00000513676.1:p.Phe182Leu | |
ENST00000296795.8:c.1375T>C MANE Select | ENSP00000296795.3:p.Phe459Leu | |
ENST00000296795.7:c.1375T>C | ENSP00000296795.2:p.Phe459Leu | |
ENST00000504367.1:c.544T>C | ENSP00000423684.1:p.Phe182Leu | |
ENST00000512264.1:n.1451T>C | ||
NM_003265.2:c.1375T>C , LRG_117t1:c.1375T>C | NP_003256.1:p.Phe459Leu | |
NM_003265.3:c.1375T>C MANE Select | NP_003256.1:p.Phe459Leu |