HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814367C>A , CM000668.2:g.32814367C>A | GRCh38 |
NC_000006.11:g.32782144C>A , CM000668.1:g.32782144C>A | GRCh37 |
NC_000006.10:g.32890122C>A | NCBI36 |
NG_009793.3:g.29404G>T | |
NG_012008.1:g.7682G>T | |
NG_009793.4:g.29404G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.596G>T MANE Select | ENSP00000390020.2:p.Cys199Phe | |
ENST00000648009.1:c.596G>T | ENSP00000496848.1:p.Cys199Phe | |
ENST00000438763.6:c.596G>T | ENSP00000390020.2:p.Cys199Phe | |
ENST00000452392.2:c.2417G>T | ENSP00000391806.2:p.Cys806Phe | |
ENST00000475235.1:n.633G>T | ||
ENST00000488325.5:c.*367G>T | ENSP00000436618.1:n.*367G>T | |
NM_002120.3:c.596G>T | NP_002111.1:p.Cys199Phe | |
NM_002120.4:c.596G>T MANE Select | NP_002111.1:p.Cys199Phe |