HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100883337C>A , CM000676.2:g.100883337C>A | GRCh38 |
NC_000014.8:g.101349674C>A , CM000676.1:g.101349674C>A | GRCh37 |
NC_000014.7:g.100419427C>A | NCBI36 |
NG_045001.1:g.6511G>T | |
NG_045000.5:g.52069C>A | |
NG_045000.6:g.52069C>A | |
NG_045001.2:g.25386G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649591.1:c.1452G>T MANE Select | ENSP00000497482.1:p.Gln484His | |
ENST00000534062.1:c.1452G>T | ENSP00000435342.1:p.Gln484His | |
NM_001134888.2:c.1452G>T | NP_001128360.1:p.Gln484His | |
NM_001134888.3:c.1452G>T MANE Select | NP_001128360.1:p.Gln484His |