HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5234025C>A , CM000673.2:g.5234025C>A | GRCh38 |
NC_000011.9:g.5255255C>A , CM000673.1:g.5255255C>A | GRCh37 |
NC_000011.8:g.5211831C>A | NCBI36 |
NG_000007.3:g.63591G>T | |
NG_063112.2:g.14633G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643122.1:c.281G>T | ENSP00000494708.1:p.Cys94Phe | |
ENST00000650601.1:c.281G>T MANE Select | ENSP00000497529.1:p.Cys94Phe | |
ENST00000292901.7:c.281G>T | ENSP00000292901.3:p.Cys94Phe | |
ENST00000380299.3:c.281G>T | ENSP00000369654.3:p.Cys94Phe | |
ENST00000417377.1:c.92+317G>T | ENSP00000414741.1:n.92+317G>T | |
ENST00000429817.1:c.281G>T | ENSP00000393810.1:p.Cys94Phe | |
NM_000519.3:c.281G>T | NP_000510.1:p.Cys94Phe | |
NM_000519.4:c.281G>T MANE Select | NP_000510.1:p.Cys94Phe |