HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17401355C>G , CM000663.2:g.17401355C>G | GRCh38 |
NC_000001.10:g.17727851C>G , CM000663.1:g.17727851C>G | GRCh37 |
NC_000001.9:g.17600438C>G | NCBI36 |
NG_032943.1:g.34110C>G | |
NG_032943.2:g.34110C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619609.1:c.2002C>G MANE Select | ENSP00000483125.1:p.Leu668Val | |
NM_207421.4:c.2002C>G MANE Select | NP_997304.3:p.Leu668Val |