HGVS | Genome Assembly |
---|---|
NC_000006.12:g.7849337T>G , CM000668.2:g.7849337T>G | GRCh38 |
NC_000006.11:g.7849570T>G , CM000668.1:g.7849570T>G | GRCh37 |
NC_000006.10:g.7794569T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000283147.7:c.857+4005T>G MANE Select | ENSP00000283147.6:n.857+4005T>G | |
ENST00000283147.6:c.857+4005T>G | ENSP00000283147.6:n.857+4005T>G | |
NM_001718.4:c.857+4005T>G | NP_001709.1:n.857+4005T>G | |
NM_001718.5:c.857+4005T>G | NP_001709.1:n.857+4005T>G | |
NM_001718.6:c.857+4005T>G MANE Select | NP_001709.1:n.857+4005T>G |