HGVS | Genome Assembly |
---|---|
NC_000005.10:g.146339787G>C , CM000667.2:g.146339787G>C | GRCh38 |
NC_000005.9:g.145719350G>C , CM000667.1:g.145719350G>C | GRCh37 |
NC_000005.8:g.145699543G>C | NCBI36 |
NG_011885.1:g.5764G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646991.2:c.360G>C MANE Select | ENSP00000495718.1:p.Leu120= | |
ENST00000230732.4:c.360G>C | ENSP00000230732.4:p.Leu120= | |
NM_002700.2:c.360G>C | NP_002691.1:p.Leu120= | |
NM_002700.3:c.360G>C MANE Select | NP_002691.1:p.Leu120= |