Revel Score:
ENST00000263774 (MANE Select)
0.625
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00102586 (EAS)
Genomes Max Group AF
0.00178542 (EAS)
Exomes Max Group AF
0.00082617 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47584422C>T , CM000673.2:g.47584422C>T | GRCh38 |
| NC_000011.9:g.47605974C>T , CM000673.1:g.47605974C>T | GRCh37 |
| NC_000011.8:g.47562550C>T | NCBI36 |
| NG_011946.1:g.10413C>T | |
| NG_011946.2:g.10413C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.736C>T MANE Select | ENSP00000263774.4:p.Arg246Cys | |
| ENST00000531351.2:n.1931C>T | ||
| ENST00000677462.1:n.3210C>T | ||
| ENST00000678975.1:n.2993C>T | ||
| ENST00000263774.8:c.736C>T | ENSP00000263774.4:p.Arg246Cys | |
| ENST00000525212.1:n.391C>T | ||
| ENST00000525378.5:n.674C>T | ||
| ENST00000533507.5:n.1630C>T | ||
| NM_004551.2:c.736C>T | NP_004542.1:p.Arg246Cys | |
| NM_004551.3:c.736C>T MANE Select | NP_004542.1:p.Arg246Cys |