ClinVar RCV:
ClinVar Variation:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45845120G>C , CM000679.2:g.45845120G>C | GRCh38 |
| NC_000017.10:g.43922486G>C , CM000679.1:g.43922486G>C | GRCh37 |
| NC_000017.9:g.41278266G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329196.7:c.214G>C (SPPL2C) MANE Select | ENSP00000332488.5:p.Gly72Arg | |
| ENST00000329196.6:c.214G>C (SPPL2C) | ENSP00000332488.5:p.Gly72Arg | |
| NM_175882.2:c.214G>C (SPPL2C) | NP_787078.2:p.Gly72Arg | |
| NR_024559.1:n.35-959C>G (MAPT-AS1) | ||
| NM_175882.3:c.214G>C (SPPL2C) MANE Select | NP_787078.2:p.Gly72Arg |