HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583329G>T , CM000679.2:g.41583329G>T | GRCh38 |
NC_000017.10:g.39739581G>T , CM000679.1:g.39739581G>T | GRCh37 |
NC_000017.9:g.36993107G>T | NCBI36 |
NG_008624.1:g.8567C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.1180C>A MANE Select | ENSP00000167586.6:p.Gln394Lys | |
ENST00000167586.6:c.1180C>A | ENSP00000167586.6:p.Gln394Lys | |
ENST00000441550.2:n.127C>A | ||
ENST00000476662.1:n.630C>A | ||
NM_000526.4:c.1180C>A | NP_000517.2:p.Gln394Lys | |
NM_000526.5:c.1180C>A MANE Select | NP_000517.3:p.Gln394Lys |