Revel Score:
ENST00000232975 (MANE Select)
0.693
ENST00000496590
0.693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451799C>A , CM000665.2:g.52451799C>A | GRCh38 |
| NC_000003.11:g.52485815C>A , CM000665.1:g.52485815C>A | GRCh37 |
| NC_000003.10:g.52460855C>A | NCBI36 |
| NG_008963.1:g.7243G>T , LRG_378:g.7243G>T | |
| NG_033112.1:g.1292C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.262G>T MANE Select | ENSP00000232975.3:p.Asp88Tyr | |
| ENST00000232975.7:c.262G>T | ENSP00000232975.3:p.Asp88Tyr | |
| ENST00000461086.1:n.193G>T | ||
| ENST00000496590.1:c.130G>T | ENSP00000420596.1:p.Asp44Tyr | |
| NM_003280.2:c.262G>T , LRG_378t1:c.262G>T | NP_003271.1:p.Asp88Tyr | |
| NM_003280.3:c.262G>T MANE Select | NP_003271.1:p.Asp88Tyr |