Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45846926G>A , CM000679.2:g.45846926G>A | GRCh38 |
| NC_000017.10:g.43924292G>A , CM000679.1:g.43924292G>A | GRCh37 |
| NC_000017.9:g.41280072G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329196.7:c.2020G>A (SPPL2C) MANE Select | ENSP00000332488.5:p.Val674Ile | |
| ENST00000329196.6:c.2020G>A (SPPL2C) | ENSP00000332488.5:p.Val674Ile | |
| NM_175882.2:c.2020G>A (SPPL2C) | NP_787078.2:p.Val674Ile | |
| NR_024559.1:n.35-2765C>T (MAPT-AS1) | ||
| NM_175882.3:c.2020G>A (SPPL2C) MANE Select | NP_787078.2:p.Val674Ile |