HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583260G>A , CM000679.2:g.41583260G>A | GRCh38 |
NC_000017.10:g.39739512G>A , CM000679.1:g.39739512G>A | GRCh37 |
NC_000017.9:g.36993038G>A | NCBI36 |
NG_008624.1:g.8636C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000167586.7:c.1249C>T MANE Select | ENSP00000167586.6:p.Arg417Cys | |
ENST00000167586.6:c.1249C>T | ENSP00000167586.6:p.Arg417Cys | |
ENST00000441550.2:n.196C>T | ||
ENST00000476662.1:n.699C>T | ||
NM_000526.4:c.1249C>T | NP_000517.2:p.Arg417Cys | |
NM_000526.5:c.1249C>T MANE Select | NP_000517.3:p.Arg417Cys |