HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122461770C= , CM000672.2:g.122461770C= | GRCh38 |
NC_000010.10:g.124221286C= , CM000672.1:g.124221286C= | GRCh37 |
NC_000010.9:g.124211276C= | NCBI36 |
NG_011554.1:g.5246C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.118C= MANE Select | ENSP00000357980.3:p.Arg40= | |
ENST00000648167.1:c.154+3061C= | ENSP00000498033.1:n.154+3061C= | |
ENST00000368984.7:c.118C= | ENSP00000357980.3:p.Arg40= | |
NM_002775.4:c.118C= | NP_002766.1:p.Arg40= | |
NM_002775.5:c.118C= MANE Select | NP_002766.1:p.Arg40= |