HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102527762G>A , CM000673.2:g.102527762G>A | GRCh38 |
NC_000011.9:g.102398493G>A , CM000673.1:g.102398493G>A | GRCh37 |
NC_000011.8:g.101903703G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260227.5:c.330C>T MANE Select | ENSP00000260227.4:p.Thr110= | |
ENST00000260227.4:c.330C>T | ENSP00000260227.4:p.Thr110= | |
ENST00000531200.1:n.377C>T | ||
ENST00000533366.5:n.380C>T | ||
NM_002423.3:c.330C>T | NP_002414.1:p.Thr110= | |
NM_002423.4:c.330C>T | NP_002414.1:p.Thr110= | |
NM_002423.5:c.330C>T MANE Select | NP_002414.1:p.Thr110= |