HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045708T= , CM000675.2:g.48045708T= | GRCh38 |
NC_000013.10:g.48619844T= , CM000675.1:g.48619844T= | GRCh37 |
NC_000013.9:g.47517845T= | NCBI36 |
NG_047021.1:g.13142T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.404T= MANE Select | ENSP00000258662.1:p.Phe135= | |
ENST00000258662.2:c.404T= | ENSP00000258662.1:p.Phe135= | |
NM_018283.2:c.404T= | NP_060753.1:p.Phe135= | |
NM_018283.3:c.404T= | NP_060753.1:p.Phe135= | |
NR_136687.1:n.584T= | ||
NR_136688.1:n.584T= | ||
NM_018283.4:c.404T= MANE Select | NP_060753.1:p.Phe135= | |
NR_136687.2:n.425T= | ||
NR_136688.2:n.425T= |