HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045724T>G , CM000675.2:g.48045724T>G | GRCh38 |
NC_000013.10:g.48619860T>G , CM000675.1:g.48619860T>G | GRCh37 |
NC_000013.9:g.47517861T>G | NCBI36 |
NG_047021.1:g.13158T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258662.3:c.420T>G MANE Select | ENSP00000258662.1:p.Cys140Trp | |
ENST00000258662.2:c.420T>G | ENSP00000258662.1:p.Cys140Trp | |
NM_018283.2:c.420T>G | NP_060753.1:p.Cys140Trp | |
NM_018283.3:c.420T>G | NP_060753.1:p.Cys140Trp | |
NR_136687.1:n.600T>G | ||
NR_136688.1:n.600T>G | ||
NM_018283.4:c.420T>G MANE Select | NP_060753.1:p.Cys140Trp | |
NR_136687.2:n.441T>G | ||
NR_136688.2:n.441T>G |