Revel Score:
ENST00000261590 (MANE Select)
0.794
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005278 (AFR)
Genomes Max Group AF
0.00002262 (AMR)
Exomes Max Group AF
0.0000585 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31522152A>G , CM000680.2:g.31522152A>G | GRCh38 |
| NC_000018.9:g.29102115A>G , CM000680.1:g.29102115A>G | GRCh37 |
| NC_000018.8:g.27356113A>G | NCBI36 |
| NG_007072.3:g.28911A>G , LRG_397:g.28911A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.424A>G | ||
| ENST00000682241.2:c.593A>G | ENSP00000507600.2:p.Tyr198Cys | |
| ENST00000683614.2:n.424A>G | ||
| ENST00000682087.1:c.424A>G | ||
| ENST00000682241.1:c.424A>G | ||
| ENST00000683614.1:c.424A>G | ||
| ENST00000683654.1:c.593A>G | ENSP00000506971.1:p.Tyr198Cys | |
| ENST00000684461.1:n.1263A>G | ||
| ENST00000261590.13:c.593A>G MANE Select | ENSP00000261590.8:p.Tyr198Cys | |
| ENST00000261590.12:c.593A>G | ENSP00000261590.8:p.Tyr198Cys | |
| ENST00000585206.1:c.593A>G | ENSP00000462503.1:p.Tyr198Cys | |
| NM_001943.3:c.593A>G , LRG_397t1:c.593A>G | NP_001934.2:p.Tyr198Cys | |
| NM_001943.4:c.593A>G | NP_001934.2:p.Tyr198Cys | |
| XM_024451095.1:c.59A>G | XP_024306863.1:p.Tyr20Cys | |
| NM_001943.5:c.593A>G MANE Select | NP_001934.2:p.Tyr198Cys |