Revel Score:
ENST00000553947
0.491
ENST00000393078 (MANE Select)
0.491
ENST00000393080
0.491
ENST00000555820
0.491
ENST00000467132
0.491
ENST00000482740
0.491
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00579314 (NFE)
Genomes Max Group AF
0.00529252 (NFE)
Exomes Max Group AF
0.00579785 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94619305C>G , CM000676.2:g.94619305C>G | GRCh38 |
| NC_000014.8:g.95085642C>G , CM000676.1:g.95085642C>G | GRCh37 |
| NC_000014.7:g.94155395C>G | NCBI36 |
| NG_012879.1:g.11929C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393078.5:c.754C>G MANE Select | ENSP00000376793.3:p.Pro252Ala | |
| ENST00000393078.4:c.754C>G | ENSP00000376793.3:p.Pro252Ala | |
| ENST00000393080.8:c.754C>G | ENSP00000376795.4:p.Pro252Ala | |
| ENST00000467132.5:c.754C>G | ENSP00000450540.1:p.Pro252Ala | |
| ENST00000482740.2:c.100C>G | ENSP00000451119.1:p.Pro34Ala | |
| ENST00000553947.1:c.1717C>G | ||
| ENST00000555820.1:c.754C>G | ENSP00000452246.3:p.Pro252Ala | |
| ENST00000556388.1:n.58-3036C>G | ||
| ENST00000556968.2:c.644-3036C>G | ENSP00000452476.1:n.644-3036C>G | |
| NM_001085.4:c.754C>G | NP_001076.2:p.Pro252Ala | |
| NM_001085.5:c.754C>G MANE Select | NP_001076.2:p.Pro252Ala | |
| NM_001384672.1:c.754C>G | NP_001371601.1:p.Pro252Ala | |
| NM_001384673.1:c.754C>G | NP_001371602.1:p.Pro252Ala | |
| NM_001384674.1:c.754C>G | NP_001371603.1:p.Pro252Ala |