HGVS | Genome Assembly |
---|---|
NC_000008.11:g.16993145G>A , CM000670.2:g.16993145G>A | GRCh38 |
NC_000008.10:g.16850654G>A , CM000670.1:g.16850654G>A | GRCh37 |
NC_000008.9:g.16895025G>A | NCBI36 |
NG_015978.1:g.14021C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000180166.6:c.563C>T MANE Select | ENSP00000180166.5:p.Thr188Ile | |
ENST00000180166.5:c.563C>T | ENSP00000180166.5:p.Thr188Ile | |
ENST00000519941.1:c.267C>T | ||
NM_019851.2:c.563C>T | NP_062825.1:p.Thr188Ile | |
NM_019851.3:c.563C>T MANE Select | NP_062825.1:p.Thr188Ile |