HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94988910T>C , CM000672.2:g.94988910T>C | GRCh38 |
NC_000010.10:g.96748667T>C , CM000672.1:g.96748667T>C | GRCh37 |
NC_000010.9:g.96738657T>C | NCBI36 |
NG_008385.1:g.55253T>C | |
NG_008385.2:g.55753T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.1355T>C MANE Select | ENSP00000260682.6:p.Ile452Thr | |
ENST00000643112.1:c.*364T>C | ENSP00000496202.1:n.*364T>C | |
ENST00000260682.6:c.1355T>C | ENSP00000260682.6:p.Ile452Thr | |
NM_000771.3:c.1355T>C | NP_000762.2:p.Ile452Thr | |
NM_000771.4:c.1355T>C MANE Select | NP_000762.2:p.Ile452Thr |