Revel Score:
ENST00000443684
0.013
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041941 (AFR)
Genomes Max Group AF
0.0006661 (AFR)
Exomes Max Group AF
0.00021829 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740184C>T , CM000685.2:g.153740184C>T | GRCh38 |
| NC_000023.10:g.153005638C>T , CM000685.1:g.153005638C>T | GRCh37 |
| NC_000023.9:g.152658832C>T | NCBI36 |
| NG_009022.2:g.20317C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1581C>T MANE Select | ENSP00000218104.3:p.Tyr527= | |
| ENST00000218104.5:c.1581C>T | ENSP00000218104.3:p.Tyr527= | |
| ENST00000443684.2:n.584C>T | ||
| NM_000033.3:c.1581C>T | NP_000024.2:p.Tyr527= | |
| XR_938507.1:n.2053C>T | ||
| XR_938507.2:n.2053C>T | ||
| NM_000033.4:c.1581C>T MANE Select | NP_000024.2:p.Tyr527= |