Revel Score:
ENST00000366560 (MANE Select)
0.961
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000174 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00018108 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512001G>C , CM000663.2:g.241512001G>C | GRCh38 |
| NC_000001.10:g.241675301G>C , CM000663.1:g.241675301G>C | GRCh37 |
| NC_000001.9:g.239741924G>C | NCBI36 |
| NG_012338.1:g.12754C>G , LRG_504:g.12754C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1024C>G | ||
| ENST00000682162.1:c.550C>G | ENSP00000508203.1:n.550C>G | |
| ENST00000682567.1:n.598C>G | ||
| ENST00000683521.1:c.521C>G | ENSP00000506864.1:p.Pro174Arg | |
| ENST00000684483.1:c.521C>G | ENSP00000507894.1:p.Pro174Arg | |
| ENST00000366560.4:c.521C>G MANE Select | ENSP00000355518.4:p.Pro174Arg | |
| ENST00000366560.3:c.521C>G | ENSP00000355518.3:p.Pro174Arg | |
| ENST00000497042.1:n.217C>G | ||
| NM_000143.3:c.521C>G , LRG_504t1:c.521C>G | NP_000134.2:p.Pro174Arg | |
| XM_011544132.1:c.293C>G | XP_011542434.1:p.Pro98Arg | |
| XM_011544132.2:c.293C>G | XP_011542434.1:p.Pro98Arg | |
| NM_000143.4:c.521C>G MANE Select | NP_000134.2:p.Pro174Arg |