HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814366G>T , CM000668.2:g.32814366G>T | GRCh38 |
NC_000006.11:g.32782143G>T , CM000668.1:g.32782143G>T | GRCh37 |
NC_000006.10:g.32890121G>T | NCBI36 |
NG_009793.3:g.29405C>A | |
NG_012008.1:g.7683C>A | |
NG_009793.4:g.29405C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.597C>A MANE Select | ENSP00000390020.2:p.Cys199Ter | |
ENST00000648009.1:c.597C>A | ENSP00000496848.1:p.Cys199Ter | |
ENST00000438763.6:c.597C>A | ENSP00000390020.2:p.Cys199Ter | |
ENST00000452392.2:c.2418C>A | ENSP00000391806.2:p.Cys806Ter | |
ENST00000475235.1:n.634C>A | ||
ENST00000488325.5:c.*368C>A | ENSP00000436618.1:n.*368C>A | |
NM_002120.3:c.597C>A | NP_002111.1:p.Cys199Ter | |
NM_002120.4:c.597C>A MANE Select | NP_002111.1:p.Cys199Ter |