COSMIC:
COSM3755406 (not active)
Revel Score:
ENST00000415846
0.058
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35071917 (EAS)
Genomes Max Group AF
0.32636807 (EAS)
Exomes Max Group AF
0.35268491 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35557785T>C , CM000679.2:g.35557785T>C | GRCh38 |
| NC_000017.10:g.33884804T>C , CM000679.1:g.33884804T>C | GRCh37 |
| NC_000017.9:g.30908917T>C | NCBI36 |
| NG_051181.1:g.8057A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674182.1:c.278A>G MANE Select | ENSP00000501524.1:p.Gln93Arg | |
| ENST00000415846.3:c.278A>G | ENSP00000391101.2:p.Gln93Arg | |
| NM_001129820.1:c.278A>G | NP_001123292.1:p.Gln93Arg | |
| XM_005257968.2:c.278A>G | XP_005258025.2:p.Gln93Arg | |
| XM_011524741.1:c.278A>G | XP_011523043.1:p.Gln93Arg | |
| XM_011524742.1:c.278A>G | XP_011523044.1:p.Gln93Arg | |
| XM_011524743.1:c.278A>G | XP_011523045.1:p.Gln93Arg | |
| XM_017024576.1:c.278A>G | XP_016880065.1:p.Gln93Arg | |
| XM_017024577.1:c.278A>G | XP_016880066.1:p.Gln93Arg | |
| XM_017024578.1:c.278A>G | XP_016880067.1:p.Gln93Arg | |
| XM_017024579.1:c.278A>G | XP_016880068.1:p.Gln93Arg | |
| NM_001129820.2:c.278A>G MANE Select | NP_001123292.1:p.Gln93Arg |