Revel Score:
ENST00000405088
0.096
ENST00000297508 (MANE Select)
0.096
gnomAD v4:
Joint Max Group AF
0.00005816 (EAS)
Exomes Max Group AF
0.00006547 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1445219G>C , CM000669.2:g.1445219G>C | GRCh38 |
| NC_000007.13:g.1484855G>C , CM000669.1:g.1484855G>C | GRCh37 |
| NC_000007.12:g.1451381G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297508.8:c.851C>G MANE Select | ENSP00000297508.7:p.Pro284Arg | |
| ENST00000297508.7:c.851C>G | ENSP00000297508.7:p.Pro284Arg | |
| ENST00000413446.5:c.725C>G | ENSP00000405415.1:p.Pro242Arg | |
| ENST00000472100.5:n.890C>G | ||
| ENST00000482839.1:n.704C>G | ||
| NM_182924.3:c.851C>G | NP_891554.1:p.Pro284Arg | |
| XM_011515520.1:c.851C>G | XP_011513822.1:p.Pro284Arg | |
| XM_011515521.1:c.851C>G | XP_011513823.1:p.Pro284Arg | |
| XM_011515522.1:c.851C>G | XP_011513824.1:p.Pro284Arg | |
| XM_011515523.1:c.602C>G | XP_011513825.1:p.Pro201Arg | |
| XR_926947.1:n.1022C>G | ||
| XM_011515520.3:c.851C>G | XP_011513822.1:p.Pro284Arg | |
| XM_011515522.3:c.851C>G | XP_011513824.1:p.Pro284Arg | |
| XM_024446932.1:c.602C>G | XP_024302700.1:p.Pro201Arg | |
| XR_001744875.1:n.882C>G | ||
| XR_002956487.1:n.1022C>G | ||
| NM_182924.4:c.851C>G MANE Select | NP_891554.1:p.Pro284Arg |