HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814368A>T , CM000668.2:g.32814368A>T | GRCh38 |
NC_000006.11:g.32782145A>T , CM000668.1:g.32782145A>T | GRCh37 |
NC_000006.10:g.32890123A>T | NCBI36 |
NG_009793.3:g.29403T>A | |
NG_012008.1:g.7681T>A | |
NG_009793.4:g.29403T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438763.7:c.595T>A MANE Select | ENSP00000390020.2:p.Cys199Ser | |
ENST00000648009.1:c.595T>A | ENSP00000496848.1:p.Cys199Ser | |
ENST00000438763.6:c.595T>A | ENSP00000390020.2:p.Cys199Ser | |
ENST00000452392.2:c.2416T>A | ENSP00000391806.2:p.Cys806Ser | |
ENST00000475235.1:n.632T>A | ||
ENST00000488325.5:c.*366T>A | ENSP00000436618.1:n.*366T>A | |
NM_002120.3:c.595T>A | NP_002111.1:p.Cys199Ser | |
NM_002120.4:c.595T>A MANE Select | NP_002111.1:p.Cys199Ser |