Revel Score:
ENST00000225927 (MANE Select)
0.989
ENST00000377405
0.989
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543700G>C , CM000679.2:g.42543700G>C | GRCh38 |
| NC_000017.10:g.40695718G>C , CM000679.1:g.40695718G>C | GRCh37 |
| NC_000017.9:g.37949244G>C | NCBI36 |
| NG_011552.1:g.12768G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1694G>C MANE Select | ENSP00000225927.1:p.Arg565Pro | |
| ENST00000225927.6:c.1694G>C | ENSP00000225927.1:p.Arg565Pro | |
| ENST00000591587.1:c.1032G>C | ENSP00000467836.1:n.1032G>C | |
| NM_000263.3:c.1694G>C | NP_000254.2:p.Arg565Pro | |
| XM_006721920.2:c.863G>C | XP_006721983.1:p.Arg288Pro | |
| XM_011524840.1:c.695G>C | XP_011523142.1:p.Arg232Pro | |
| XM_017024687.1:c.863G>C | XP_016880176.1:p.Arg288Pro | |
| XM_024450771.1:c.1751G>C | XP_024306539.1:p.Arg584Pro | |
| XM_024450772.1:c.695G>C | XP_024306540.1:p.Arg232Pro | |
| NM_000263.4:c.1694G>C MANE Select | NP_000254.2:p.Arg565Pro |