HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44456710C>G , CM000683.2:g.44456710C>G | GRCh38 |
NC_000021.8:g.45876593C>G , CM000683.1:g.45876593C>G | GRCh37 |
NC_000021.7:g.44701021C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291592.6:c.66C>G MANE Select | ENSP00000291592.4:p.Phe22Leu | |
ENST00000291592.5:c.66C>G | ENSP00000291592.4:p.Phe22Leu | |
NM_030891.4:c.66C>G | NP_112153.1:p.Phe22Leu | |
NM_030891.5:c.66C>G | NP_112153.1:p.Phe22Leu | |
NM_030891.6:c.66C>G MANE Select | NP_112153.1:p.Phe22Leu |