Revel Score:
ENST00000367468 (MANE Select)
0.036
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01552568 (EAS)
Genomes Max Group AF
0.01500424 (EAS)
Exomes Max Group AF
0.01528223 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186674409C>T , CM000663.2:g.186674409C>T | GRCh38 |
| NC_000001.10:g.186643541C>T , CM000663.1:g.186643541C>T | GRCh37 |
| NC_000001.9:g.184910164C>T | NCBI36 |
| NG_028206.2:g.11019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.1759G>A MANE Select | ENSP00000356438.5:p.Gly587Arg | |
| ENST00000680451.1:c.1759G>A | ENSP00000506242.1:p.Gly587Arg | |
| ENST00000681605.1:c.*1431G>A | ENSP00000504900.1:n.*1431G>A | |
| ENST00000367468.9:c.1759G>A | ENSP00000356438.5:p.Gly587Arg | |
| ENST00000490885.6:n.2174G>A | ||
| ENST00000559627.1:c.1649G>A | ENSP00000454130.1:n.1649G>A | |
| NM_000963.3:c.1759G>A | NP_000954.1:p.Gly587Arg | |
| NM_000963.4:c.1759G>A MANE Select | NP_000954.1:p.Gly587Arg |