HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583766G>C , CM000679.2:g.41583766G>C | GRCh38 |
NC_000017.10:g.39740018G>C , CM000679.1:g.39740018G>C | GRCh37 |
NC_000017.9:g.36993544G>C | NCBI36 |
NG_008624.1:g.8130C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.921C>G MANE Select | ENSP00000167586.6:p.Phe307Leu | |
ENST00000167586.6:c.921C>G | ENSP00000167586.6:p.Phe307Leu | |
ENST00000476662.1:n.371C>G | ||
NM_000526.4:c.921C>G | NP_000517.2:p.Phe307Leu | |
NM_000526.5:c.921C>G MANE Select | NP_000517.3:p.Phe307Leu |