COSMIC:
COSM4415881 (not active)
Revel Score:
ENST00000370474 (MANE Select)
0.160
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30248135 (AFR)
Genomes Max Group AF
0.29887705 (AFR)
Exomes Max Group AF
0.30390974 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70579486A>G , CM000668.2:g.70579486A>G | GRCh38 |
| NC_000006.11:g.71289189A>G , CM000668.1:g.71289189A>G | GRCh37 |
| NC_000006.10:g.71345910A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370474.4:c.137A>G MANE Select | ENSP00000359505.3:p.Gln46Arg | |
| ENST00000370474.3:c.137A>G | ENSP00000359505.3:p.Gln46Arg | |
| NM_145267.2:c.137A>G | NP_660310.2:p.Gln46Arg | |
| NM_145267.3:c.137A>G MANE Select | NP_660310.2:p.Gln46Arg |