HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46009967G= , CM000682.2:g.46009967G= | GRCh38 |
NC_000020.10:g.44638606G= , CM000682.1:g.44638606G= | GRCh37 |
NC_000020.9:g.44072013G= | NCBI36 |
NG_011468.1:g.6060G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.240G= MANE Select | ENSP00000361405.3:p.Leu80= | |
NM_004994.2:c.240G= | NP_004985.2:p.Leu80= | |
NM_004994.3:c.240G= MANE Select | NP_004985.2:p.Leu80= |