HGVS | Genome Assembly |
---|---|
NC_000017.11:g.45845777A>T , CM000679.2:g.45845777A>T | GRCh38 |
NC_000017.10:g.43923143A>T , CM000679.1:g.43923143A>T | GRCh37 |
NC_000017.9:g.41278923A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329196.7:c.871A>T (SPPL2C) MANE Select | ENSP00000332488.5:p.Ile291Phe | |
ENST00000329196.6:c.871A>T (SPPL2C) | ENSP00000332488.5:p.Ile291Phe | |
NM_175882.2:c.871A>T (SPPL2C) | NP_787078.2:p.Ile291Phe | |
NR_024559.1:n.35-1616T>A (MAPT-AS1) | ||
NM_175882.3:c.871A>T (SPPL2C) MANE Select | NP_787078.2:p.Ile291Phe |