HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24262076G>T , CM000676.2:g.24262076G>T | GRCh38 |
NC_000014.8:g.24731282G>T , CM000676.1:g.24731282G>T | GRCh37 |
NC_000014.7:g.23801122G>T | NCBI36 |
NG_007150.1:g.6091C>A | |
NG_007150.2:g.6091C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000206765.11:c.277C>A MANE Select | ENSP00000206765.6:p.Arg93= | |
ENST00000206765.10:c.277C>A | ENSP00000206765.6:p.Arg93= | |
ENST00000544573.5:c.-29+51C>A | ENSP00000439446.1:n.-29+51C>A | |
ENST00000558074.1:c.277C>A | ENSP00000453840.1:p.Arg93= | |
NM_000359.2:c.277C>A | NP_000350.1:p.Arg93= | |
NM_000359.3:c.277C>A MANE Select | NP_000350.1:p.Arg93= |