HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46011188T>C , CM000682.2:g.46011188T>C | GRCh38 |
NC_000020.10:g.44639827T>C , CM000682.1:g.44639827T>C | GRCh37 |
NC_000020.9:g.44073234T>C | NCBI36 |
NG_011468.1:g.7281T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.695T>C MANE Select | ENSP00000361405.3:p.Phe232Ser | |
NM_004994.2:c.695T>C | NP_004985.2:p.Phe232Ser | |
NM_004994.3:c.695T>C MANE Select | NP_004985.2:p.Phe232Ser |