COSMIC:
COSM3746875 (not active)
Revel Score:
ENST00000374479 (MANE Select)
0.057
ENST00000374475
0.057
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33580047 (NFE)
Genomes Max Group AF
0.33145919 (NFE)
Exomes Max Group AF
0.33587041 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23854472T>C , CM000663.2:g.23854472T>C | GRCh38 |
| NC_000001.10:g.24180962T>C , CM000663.1:g.24180962T>C | GRCh37 |
| NC_000001.9:g.24053549T>C | NCBI36 |
| NG_013346.1:g.18898A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.857A>G MANE Select | ENSP00000363603.3:p.Gln286Arg | |
| ENST00000374479.3:c.857A>G | ENSP00000363603.3:p.Gln286Arg | |
| NM_000147.4:c.857A>G | NP_000138.2:p.Gln286Arg | |
| XM_005245821.1:c.482A>G | XP_005245878.1:p.Gln161Arg | |
| XM_011541167.1:c.224A>G | XP_011539469.1:p.Gln75Arg | |
| XM_005245821.3:c.482A>G | XP_005245878.1:p.Gln161Arg | |
| XM_011541167.3:c.224A>G | XP_011539469.1:p.Gln75Arg | |
| XM_017000905.2:c.554A>G | XP_016856394.1:p.Gln185Arg | |
| NM_000147.5:c.857A>G MANE Select | NP_000138.2:p.Gln286Arg | |
| NR_174379.1:n.1035A>G | ||
| NR_174380.1:n.1084A>G | ||
| NR_174381.1:n.923A>G | ||
| NR_174382.1:n.1320A>G |