Revel Score:
ENST00000264193
0.856
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00110496 (SAS)
Genomes Max Group AF
0.00028174 (SAS)
Exomes Max Group AF
0.00112467 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98580709G>A , CM000665.2:g.98580709G>A | GRCh38 |
| NC_000003.11:g.98299553G>A , CM000665.1:g.98299553G>A | GRCh37 |
| NC_000003.10:g.99782243G>A | NCBI36 |
| NG_015994.1:g.17903C>T | |
| NG_015994.2:g.17903C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512905.6:c.163+698C>T | ||
| ENST00000647941.2:c.1339C>T MANE Select | ENSP00000497326.1:p.Arg447Cys | |
| ENST00000264193.2:c.1339C>T | ENSP00000264193.2:p.Arg447Cys | |
| ENST00000512905.5:c.163+698C>T | ||
| NM_000097.5:c.1339C>T | NP_000088.3:p.Arg447Cys | |
| XM_005247125.3:c.1173-2439C>T | XP_005247182.1:n.1173-2439C>T | |
| NM_000097.7:c.1339C>T MANE Select | NP_000088.3:p.Arg447Cys | |
| XM_005247125.4:c.1173-2439C>T | XP_005247182.1:n.1173-2439C>T | |
| XR_001740025.2:n.1344-2439C>T | ||
| XR_001740026.1:n.2074C>T | ||
| XR_001740027.1:n.1614C>T | ||
| XR_001740028.1:n.1580C>T |