COSMIC:
COSN26728539 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52273116 (EAS)
Genomes Max Group AF
0.52487305 (EAS)
Exomes Max Group AF
0.27245262 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61815236T>C , CM000673.2:g.61815236T>C | GRCh38 |
| NC_000011.9:g.61582708T>C , CM000673.1:g.61582708T>C | GRCh37 |
| NC_000011.8:g.61339284T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350997.12:c.375+1319A>G (FADS1) MANE Select | ENSP00000322229.9:n.375+1319A>G | |
| ENST00000350997.11:c.375+1319A>G (FADS1) | ENSP00000322229.9:n.375+1319A>G | |
| ENST00000421879.5:c.-48-1883A>G (FADS1) | ENSP00000416043.1:n.-48-1883A>G | |
| ENST00000424501.5:c.217+1319A>G (FADS1) | ||
| ENST00000433932.5:c.-49+707A>G (FADS1) | ENSP00000405087.1:n.-49+707A>G | |
| ENST00000448607.1:c.-48-1883A>G (FADS1) | ENSP00000391229.1:n.-48-1883A>G | |
| ENST00000466716.5:c.-264+1181A>G (FADS1) | ENSP00000446270.1:n.-264+1181A>G | |
| ENST00000473263.1:c.-163+550A>G (FADS1) | ENSP00000445442.1:n.-163+550A>G | |
| ENST00000491310.5:c.224+1319A>G (FADS1) | ||
| ENST00000540767.5:c.-49+1026A>G (FADS1) | ENSP00000441871.1:n.-49+1026A>G | |
| ENST00000541683.1:n.947A>G (FADS1) | ||
| ENST00000542506.5:c.-489A>G (FADS1) | ENSP00000441403.1:n.-489A>G | |
| ENST00000544309.5:c.-49+1756A>G (FADS1) | ENSP00000439790.1:n.-49+1756A>G | |
| ENST00000544696.5:c.-49+691A>G (FADS1) | ENSP00000443037.1:n.-49+691A>G | |
| ENST00000574708.5:c.-54-10796T>C (FADS2) | ENSP00000458917.1:n.-54-10796T>C | |
| NM_013402.4:c.375+1319A>G (FADS1) | NP_037534.3:n.375+1319A>G | |
| NR_031729.1:n.5A>G (MIR1908) | ||
| XM_011545022.1:c.-1A>G (FADS1) | XP_011543324.1:n.-1A>G | |
| NM_013402.6:c.375+1319A>G (FADS1) | NP_037534.5:n.375+1319A>G | |
| XM_011545022.2:c.-1A>G (FADS1) | XP_011543324.1:n.-1A>G | |
| NM_013402.7:c.375+1319A>G (FADS1) MANE Select | NP_037534.5:n.375+1319A>G |