COSMIC:
COSM4984904 (not active)
COSM4984905 (not active)
Revel Score:
ENST00000446378 (MANE Select)
0.040
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45262781 (EAS)
Genomes Max Group AF
0.39058025 (EAS)
Exomes Max Group AF
0.45913938 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79738839C>G , CM000667.2:g.79738839C>G | GRCh38 |
| NC_000005.9:g.79034662C>G , CM000667.1:g.79034662C>G | GRCh37 |
| NC_000005.8:g.79070418C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446378.3:c.10074C>G MANE Select | ENSP00000394770.2:p.His3358Gln | |
| ENST00000446378.2:c.10074C>G | ENSP00000394770.2:p.His3358Gln | |
| ENST00000506603.5:n.698C>G | ||
| NM_153610.4:c.10074C>G | NP_705838.3:p.His3358Gln | |
| XR_948242.1:n.10146C>G | ||
| XM_017009212.1:c.9858C>G | XP_016864701.1:p.His3286Gln | |
| XR_001742036.2:n.10275C>G | ||
| XR_948242.2:n.10275C>G | ||
| NM_153610.5:c.10074C>G MANE Select | NP_705838.3:p.His3358Gln |