HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41584398C>A , CM000679.2:g.41584398C>A | GRCh38 |
NC_000017.10:g.39740650C>A , CM000679.1:g.39740650C>A | GRCh37 |
NC_000017.9:g.36994176C>A | NCBI36 |
NG_008624.1:g.7498G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.624G>T MANE Select | ENSP00000167586.6:p.Leu208Phe | |
ENST00000167586.6:c.624G>T | ENSP00000167586.6:p.Leu208Phe | |
ENST00000476662.1:n.74G>T | ||
NM_000526.4:c.624G>T | NP_000517.2:p.Leu208Phe | |
NM_000526.5:c.624G>T MANE Select | NP_000517.3:p.Leu208Phe |