HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100883139G>T , CM000676.2:g.100883139G>T | GRCh38 |
NC_000014.8:g.101349476G>T , CM000676.1:g.101349476G>T | GRCh37 |
NC_000014.7:g.100419229G>T | NCBI36 |
NG_045001.1:g.6709C>A | |
NG_045000.5:g.51871G>T | |
NG_045000.6:g.51871G>T | |
NG_045001.2:g.25584C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649591.1:c.1650C>A MANE Select | ENSP00000497482.1:p.Ser550Arg | |
ENST00000534062.1:c.1650C>A | ENSP00000435342.1:p.Ser550Arg | |
NM_001134888.2:c.1650C>A | NP_001128360.1:p.Ser550Arg | |
NM_001134888.3:c.1650C>A MANE Select | NP_001128360.1:p.Ser550Arg |