HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94041235T>A , CM000663.2:g.94041235T>A | GRCh38 |
NC_000001.10:g.94506791T>A , CM000663.1:g.94506791T>A | GRCh37 |
NC_000001.9:g.94279379T>A | NCBI36 |
NG_009073.1:g.84915A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370225.4:c.3496A>T MANE Select | ENSP00000359245.3:p.Ile1166Phe | |
ENST00000370225.3:c.3496A>T | ENSP00000359245.3:p.Ile1166Phe | |
ENST00000536513.5:c.-64-1146A>T | ENSP00000439707.2:n.-64-1146A>T | |
NM_000350.2:c.3496A>T | NP_000341.2:p.Ile1166Phe | |
NM_000350.3:c.3496A>T MANE Select | NP_000341.2:p.Ile1166Phe |