Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127701533C>T , CM000664.2:g.127701533C>T | GRCh38 |
| NC_000002.11:g.128459107C>T , CM000664.1:g.128459107C>T | GRCh37 |
| NC_000002.10:g.128175577C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018383.5:c.*4790G>A (WDR33) MANE Select | NP_060853.3:n.*4790G>A |
| NM_032740.4:c.5C>T (SFT2D3) MANE Select | NP_116129.3:p.Ala2Val |
| ENST00000310981.6:c.5C>T (SFT2D3) MANE Select | ENSP00000310803.3:p.Ala2Val |
| ENST00000322313.9:c.*4790G>A (WDR33) MANE Select | ENSP00000325377.3:n.*4790G>A |
| NM_032740.3:c.5C>T (SFT2D3) | NP_116129.3:p.Ala2Val |
| ENST00000310981.5:c.5C>T (SFT2D3) | ENSP00000310803.3:p.Ala2Val |
| ENST00000322313.8:c.*4790G>A (WDR33) | ENSP00000325377.3:n.*4790G>A |