Revel Score:
ENST00000319144
0.969
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011895 (NFE)
Genomes Max Group AF
0.00012402 (NFE)
Exomes Max Group AF
0.00011452 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075687T>C , CM000679.2:g.8075687T>C | GRCh38 |
| NC_000017.10:g.7979005T>C , CM000679.1:g.7979005T>C | GRCh37 |
| NC_000017.9:g.7919730T>C | NCBI36 |
| NG_007099.1:g.17017A>G | |
| NG_007099.2:g.17030A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1562A>G MANE Select | ENSP00000497784.1:p.Tyr521Cys | |
| ENST00000649809.1:c.626A>G | ENSP00000496845.1:p.Tyr209Cys | |
| ENST00000319144.4:c.1562A>G | ENSP00000315167.4:p.Tyr521Cys | |
| ENST00000577351.5:n.479+488A>G | ||
| NM_001139.2:c.1562A>G | NP_001130.1:p.Tyr521Cys | |
| NM_001139.3:c.1562A>G MANE Select | NP_001130.1:p.Tyr521Cys |