HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100883103C= , CM000676.2:g.100883103C= | GRCh38 |
NC_000014.8:g.101349440C= , CM000676.1:g.101349440C= | GRCh37 |
NC_000014.7:g.100419193C= | NCBI36 |
NG_045001.1:g.6745G= | |
NG_045000.5:g.51835C= | |
NG_045000.6:g.51835C= | |
NG_045001.2:g.25620G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649591.1:c.1686G= MANE Select | ENSP00000497482.1:p.Leu562= | |
ENST00000534062.1:c.1686G= | ENSP00000435342.1:p.Leu562= | |
NM_001134888.2:c.1686G= | NP_001128360.1:p.Leu562= | |
NM_001134888.3:c.1686G= MANE Select | NP_001128360.1:p.Leu562= |