Revel Score:
ENST00000370449
0.874
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020571 (EAS)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00021265 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99800531C>T , CM000672.2:g.99800531C>T | GRCh38 |
| NC_000010.10:g.101560288C>T , CM000672.1:g.101560288C>T | GRCh37 |
| NC_000010.9:g.101550278C>T | NCBI36 |
| NG_011798.1:g.22826C>T | |
| NG_011798.2:g.22934C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.1177C>T MANE Select | ENSP00000497274.1:p.Arg393Trp | |
| ENST00000370449.8:c.1177C>T | ENSP00000359478.4:p.Arg393Trp | |
| NM_000392.4:c.1177C>T | NP_000383.1:p.Arg393Trp | |
| XM_006717630.2:c.481C>T | XP_006717693.1:p.Arg161Trp | |
| XM_006717631.2:c.1177C>T | XP_006717694.1:p.Arg393Trp | |
| XM_011539291.1:c.1177C>T | XP_011537593.1:p.Arg393Trp | |
| XR_945604.1:n.1366C>T | ||
| XR_945605.1:n.1368C>T | ||
| NM_000392.5:c.1177C>T MANE Select | NP_000383.2:p.Arg393Trp | |
| XM_006717630.3:c.481C>T | XP_006717693.1:p.Arg161Trp | |
| XM_006717631.4:c.1177C>T | XP_006717694.1:p.Arg393Trp | |
| XM_011539291.3:c.1177C>T | XP_011537593.1:p.Arg393Trp | |
| XM_017015675.2:c.1177C>T | XP_016871164.1:p.Arg393Trp | |
| XR_945604.3:n.1420C>T | ||
| XR_945605.3:n.1420C>T |