HGVS | Genome Assembly |
---|---|
NC_000001.11:g.162356033C>T , CM000663.2:g.162356033C>T | GRCh38 |
NC_000001.10:g.162325823C>T , CM000663.1:g.162325823C>T | GRCh37 |
NC_000001.9:g.160592447C>T | NCBI36 |
NG_015979.1:g.291243C>T | |
NG_015979.2:g.291243C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361897.10:c.762+680C>T MANE Select | ENSP00000355133.5:n.762+680C>T | |
ENST00000361897.9:c.762+680C>T | ENSP00000355133.5:n.762+680C>T | |
ENST00000430120.3:c.747+680C>T | ENSP00000396713.3:n.747+680C>T | |
ENST00000530878.5:c.747+680C>T | ENSP00000431586.1:n.747+680C>T | |
NM_001164757.1:c.747+680C>T | NP_001158229.1:n.747+680C>T | |
NM_014697.2:c.762+680C>T | NP_055512.1:n.762+680C>T | |
NM_014697.3:c.762+680C>T MANE Select | NP_055512.1:n.762+680C>T | |
NM_001164757.2:c.747+680C>T | NP_001158229.1:n.747+680C>T |