Revel Score:
ENST00000370449
0.922
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00120518 (EAS)
Genomes Max Group AF
0.00015698 (EAS)
Exomes Max Group AF
0.00129474 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99818820C>T , CM000672.2:g.99818820C>T | GRCh38 |
| NC_000010.10:g.101578577C>T , CM000672.1:g.101578577C>T | GRCh37 |
| NC_000010.9:g.101568567C>T | NCBI36 |
| NG_011798.1:g.41115C>T | |
| NG_011798.2:g.41223C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2302C>T MANE Select | ENSP00000497274.1:p.Arg768Trp | |
| ENST00000370449.8:c.2302C>T | ENSP00000359478.4:p.Arg768Trp | |
| NM_000392.4:c.2302C>T | NP_000383.1:p.Arg768Trp | |
| XM_006717630.2:c.1606C>T | XP_006717693.1:p.Arg536Trp | |
| XM_006717631.2:c.2302C>T | XP_006717694.1:p.Arg768Trp | |
| XM_011539291.1:c.2302C>T | XP_011537593.1:p.Arg768Trp | |
| XR_945604.1:n.2491C>T | ||
| XR_945605.1:n.2493C>T | ||
| NM_000392.5:c.2302C>T MANE Select | NP_000383.2:p.Arg768Trp | |
| XM_006717630.3:c.1606C>T | XP_006717693.1:p.Arg536Trp | |
| XM_006717631.4:c.2302C>T | XP_006717694.1:p.Arg768Trp | |
| XM_011539291.3:c.2302C>T | XP_011537593.1:p.Arg768Trp | |
| XM_017015675.2:c.2302C>T | XP_016871164.1:p.Arg768Trp | |
| XR_945604.3:n.2545C>T | ||
| XR_945605.3:n.2545C>T |