Revel Score:
ENST00000216373 (MANE Select)
0.520
ENST00000543680
0.520
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00925912 (NFE)
Genomes Max Group AF
0.00685921 (NFE)
Exomes Max Group AF
0.00937738 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50188639G>C , CM000676.2:g.50188639G>C | GRCh38 |
| NC_000014.8:g.50655357G>C , CM000676.1:g.50655357G>C | GRCh37 |
| NC_000014.7:g.49725107G>C | NCBI36 |
| NG_051073.1:g.48055C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.572C>G MANE Select | ENSP00000216373.5:p.Pro191Arg | |
| ENST00000216373.9:c.572C>G | ENSP00000216373.5:p.Pro191Arg | |
| ENST00000543680.5:c.572C>G | ENSP00000445328.1:p.Pro191Arg | |
| ENST00000556469.5:n.482-6033C>G | ||
| NM_006939.2:c.572C>G | NP_008870.2:p.Pro191Arg | |
| XM_005268021.1:c.392C>G | XP_005268078.1:p.Pro131Arg | |
| XM_011537103.1:c.533C>G | XP_011535405.1:p.Pro178Arg | |
| XM_011537104.1:c.572C>G | XP_011535406.1:p.Pro191Arg | |
| XR_943842.1:n.1039+4767G>C | ||
| XR_943843.1:n.1039+4767G>C | ||
| NM_006939.3:c.572C>G | NP_008870.2:p.Pro191Arg | |
| NM_006939.4:c.572C>G MANE Select | NP_008870.2:p.Pro191Arg |