HGVS | Genome Assembly |
---|---|
NC_000023.11:g.46853753T>A , CM000685.2:g.46853753T>A | GRCh38 |
NC_000023.10:g.46713188T>A , CM000685.1:g.46713188T>A | GRCh37 |
NC_000023.9:g.46598132T>A | NCBI36 |
NG_009107.1:g.21842T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218340.4:c.380T>A MANE Select | ENSP00000218340.3:p.Val127Asp | |
ENST00000218340.3:c.380T>A | ENSP00000218340.3:p.Val127Asp | |
NM_006915.2:c.380T>A | NP_008846.2:p.Val127Asp | |
NM_006915.3:c.380T>A MANE Select | NP_008846.2:p.Val127Asp |