HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045707T>A , CM000675.2:g.48045707T>A | GRCh38 |
NC_000013.10:g.48619843T>A , CM000675.1:g.48619843T>A | GRCh37 |
NC_000013.9:g.47517844T>A | NCBI36 |
NG_047021.1:g.13141T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.403T>A MANE Select | ENSP00000258662.1:p.Phe135Ile | |
ENST00000258662.2:c.403T>A | ENSP00000258662.1:p.Phe135Ile | |
NM_018283.2:c.403T>A | NP_060753.1:p.Phe135Ile | |
NM_018283.3:c.403T>A | NP_060753.1:p.Phe135Ile | |
NR_136687.1:n.583T>A | ||
NR_136688.1:n.583T>A | ||
NM_018283.4:c.403T>A MANE Select | NP_060753.1:p.Phe135Ile | |
NR_136687.2:n.424T>A | ||
NR_136688.2:n.424T>A |