Revel Score:
ENST00000503569
0.323
ENST00000226760 (MANE Select)
0.323
ENST00000506362
0.112
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00069823 (AFR)
Genomes Max Group AF
0.00062291 (AFR)
Exomes Max Group AF
0.00064483 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291932C>G , CM000666.2:g.6291932C>G | GRCh38 |
| NC_000004.11:g.6293659C>G , CM000666.1:g.6293659C>G | GRCh37 |
| NC_000004.10:g.6344560C>G | NCBI36 |
| NG_011700.1:g.27083C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.647C>G | ENSP00000507852.1:p.Pro216Arg | |
| ENST00000683395.1:c.624C>G | ||
| ENST00000684087.1:c.647C>G | ENSP00000506978.1:p.Pro216Arg | |
| ENST00000506362.2:c.398C>G | ENSP00000424103.2:p.Pro133Arg | |
| ENST00000673642.1:c.446C>G | ENSP00000501242.1:p.Pro149Arg | |
| ENST00000673991.1:c.647C>G | ENSP00000501033.1:p.Pro216Arg | |
| ENST00000226760.5:c.647C>G MANE Select | ENSP00000226760.1:p.Pro216Arg | |
| ENST00000503569.5:c.647C>G | ENSP00000423337.1:p.Pro216Arg | |
| ENST00000506362.1:c.244C>G | ||
| ENST00000507765.1:n.832C>G | ||
| NM_001145853.1:c.647C>G | NP_001139325.1:p.Pro216Arg | |
| NM_006005.3:c.647C>G MANE Select | NP_005996.2:p.Pro216Arg | |
| XM_017008586.1:c.656C>G | XP_016864075.1:p.Pro219Arg |