HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154190173T>C , CM000685.2:g.154190173T>C | GRCh38 |
NC_000023.10:g.153455662T>C , CM000685.1:g.153455662T>C | GRCh37 |
NG_011606.1:g.12578T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000595290.6:c.529T>C MANE Select | ENSP00000472316.1:p.Trp177Arg | |
ENST00000595290.5:c.529T>C | ENSP00000472316.1:p.Trp177Arg | |
ENST00000595330.1:n.539T>C | ||
ENST00000596998.2:c.116T>C | ||
NM_000513.2:c.529T>C MANE Select | NP_000504.1:p.Trp177Arg |