HGVS | Genome Assembly |
---|---|
NC_000006.12:g.7881083C>G , CM000668.2:g.7881083C>G | GRCh38 |
NC_000006.11:g.7881316C>G , CM000668.1:g.7881316C>G | GRCh37 |
NC_000006.10:g.7826315C>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000283147.7:c.*740C>G MANE Select | ENSP00000283147.6:n.*740C>G | |
ENST00000283147.6:c.*740C>G | ENSP00000283147.6:n.*740C>G | |
NM_001718.4:c.*740C>G | NP_001709.1:n.*740C>G | |
NM_001718.5:c.*740C>G | NP_001709.1:n.*740C>G | |
NM_001718.6:c.*740C>G MANE Select | NP_001709.1:n.*740C>G |