HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5045894C>G , CM000674.2:g.5045894C>G | GRCh38 |
NC_000012.11:g.5155060C>G , CM000674.1:g.5155060C>G | GRCh37 |
NC_000012.10:g.5025321C>G | NCBI36 |
NG_012198.1:g.6976C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.1747C>G MANE Select | ENSP00000252321.3:p.Leu583Val | |
ENST00000252321.4:c.1747C>G | ENSP00000252321.3:p.Leu583Val | |
NM_002234.3:c.1747C>G | NP_002225.2:p.Leu583Val | |
NM_002234.4:c.1747C>G MANE Select | NP_002225.2:p.Leu583Val |