COSMIC:
COSM5002017 (not active)
Revel Score:
ENST00000448696 (MANE Select)
0.048
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1135937 (AMR)
Genomes Max Group AF
0.08450289 (AMR)
Exomes Max Group AF
0.12252229 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21481557T>G , CM000671.2:g.21481557T>G | GRCh38 |
| NC_000009.11:g.21481556T>G , CM000671.1:g.21481556T>G | GRCh37 |
| NC_000009.10:g.21471556T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448696.4:c.138A>C (IFNE) MANE Select | ENSP00000418018.2:p.Gln46His | |
| NM_176891.4:c.138A>C (IFNE) | NP_795372.1:p.Gln46His | |
| NR_027054.1:n.211-4265A>C (MIR31HG) | ||
| NR_027054.2:n.311-4265A>C (MIR31HG) | ||
| NR_152877.1:n.52-4265A>C (MIR31HG) | ||
| NR_152878.1:n.52-4265A>C (MIR31HG) | ||
| NR_152879.1:n.311-4265A>C (MIR31HG) | ||
| NM_176891.5:c.138A>C (IFNE) MANE Select | NP_795372.1:p.Gln46His |