Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45845169C>T , CM000679.2:g.45845169C>T | GRCh38 |
| NC_000017.10:g.43922535C>T , CM000679.1:g.43922535C>T | GRCh37 |
| NC_000017.9:g.41278315C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_175882.3:c.263C>T (SPPL2C) MANE Select | NP_787078.2:p.Pro88Leu |
| ENST00000329196.7:c.263C>T (SPPL2C) MANE Select | ENSP00000332488.5:p.Pro88Leu |
| NM_175882.2:c.263C>T (SPPL2C) | NP_787078.2:p.Pro88Leu |
| NR_024559.1:n.35-1008G>A (MAPT-AS1) | |
| ENST00000329196.6:c.263C>T (SPPL2C) | ENSP00000332488.5:p.Pro88Leu |