HGVS | Genome Assembly |
---|---|
NC_000023.11:g.46853736T>A , CM000685.2:g.46853736T>A | GRCh38 |
NC_000023.10:g.46713171T>A , CM000685.1:g.46713171T>A | GRCh37 |
NC_000023.9:g.46598115T>A | NCBI36 |
NG_009107.1:g.21825T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000218340.4:c.363T>A MANE Select | ENSP00000218340.3:p.Asp121Glu | |
ENST00000218340.3:c.363T>A | ENSP00000218340.3:p.Asp121Glu | |
NM_006915.2:c.363T>A | NP_008846.2:p.Asp121Glu | |
NM_006915.3:c.363T>A MANE Select | NP_008846.2:p.Asp121Glu |