HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862809A>T , CM000666.2:g.4862809A>T | GRCh38 |
NC_000004.11:g.4864536A>T , CM000666.1:g.4864536A>T | GRCh37 |
NC_000004.10:g.4915437A>T | NCBI36 |
NG_008121.1:g.8145A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382723.5:c.578A>T MANE Select | ENSP00000372170.4:p.Gln193Leu | |
ENST00000382723.4:c.578A>T | ENSP00000372170.4:p.Gln193Leu | |
ENST00000468421.1:n.290A>T | ||
NM_002448.3:c.578A>T MANE Select | NP_002439.2:p.Gln193Leu |