Revel Score:
ENST00000314067 (MANE Select)
0.239
ENST00000238628
0.239
ENST00000556742
0.239
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75985794A>T , CM000676.2:g.75985794A>T | GRCh38 |
| NC_000014.8:g.76452137A>T , CM000676.1:g.76452137A>T | GRCh37 |
| NC_000014.7:g.75521890A>T | NCBI36 |
| NG_011715.1:g.956T>A , LRG_399:g.956T>A | |
| NG_031957.1:g.5042A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314067.11:c.8A>T MANE Select | ENSP00000324177.6:p.Asp3Val | |
| ENST00000679083.1:c.-239A>T | ENSP00000504736.1:n.-239A>T | |
| ENST00000238628.10:c.8A>T | ENSP00000238628.6:p.Asp3Val | |
| ENST00000314067.10:c.8A>T | ENSP00000324177.6:p.Asp3Val | |
| ENST00000542766.5:c.8A>T | ENSP00000440064.1:p.Asp3Val | |
| ENST00000553338.1:n.1A>T | ||
| ENST00000554026.5:n.15A>T | ||
| ENST00000555305.5:n.15A>T | ||
| ENST00000555370.5:c.8A>T | ENSP00000452051.1:p.Asp3Val | |
| ENST00000555677.5:n.90-3091A>T | ||
| ENST00000556742.1:c.8A>T | ENSP00000451096.1:p.Asp3Val | |
| NM_001102564.1:c.8A>T | NP_001096034.1:p.Asp3Val | |
| NM_001255995.1:c.8A>T | NP_001242924.1:p.Asp3Val | |
| NM_052873.2:c.8A>T | NP_443105.2:p.Asp3Val | |
| NR_045664.1:n.42A>T | ||
| NR_045665.1:n.42A>T | ||
| NM_001102564.2:c.8A>T | NP_001096034.1:p.Asp3Val | |
| NM_001255995.2:c.8A>T | NP_001242924.1:p.Asp3Val | |
| NM_052873.3:c.8A>T | NP_443105.2:p.Asp3Val | |
| NM_001102564.3:c.8A>T MANE Select | NP_001096034.1:p.Asp3Val | |
| NM_001255995.3:c.8A>T | NP_001242924.1:p.Asp3Val | |
| NR_045664.2:n.32A>T | ||
| NR_045665.2:n.32A>T |