gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006073 (SAS)
Exomes Max Group AF
0.00006593 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61803876C>T , CM000673.2:g.61803876C>T | GRCh38 |
| NC_000011.9:g.61571348C>T , CM000673.1:g.61571348C>T | GRCh37 |
| NC_000011.8:g.61327924C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350997.12:c.1054-109G>A (FADS1) MANE Select | ENSP00000322229.9:n.1054-109G>A | |
| ENST00000350997.11:c.1054-109G>A (FADS1) | ENSP00000322229.9:n.1054-109G>A | |
| ENST00000433932.5:c.631-109G>A (FADS1) | ENSP00000405087.1:n.631-109G>A | |
| ENST00000460649.5:c.-121G>A (FADS1) | ENSP00000445253.1:n.-121G>A | |
| ENST00000496123.6:n.328-109G>A (FADS1) | ||
| ENST00000536991.5:c.127-109G>A (FADS1) | ENSP00000439097.1:n.127-109G>A | |
| ENST00000539999.1:c.241-109G>A (FADS1) | ENSP00000443587.1:n.241-109G>A | |
| ENST00000542506.5:c.631-109G>A (FADS1) | ENSP00000441403.1:n.631-109G>A | |
| ENST00000574708.5:c.-55+10848C>T (FADS2) | ENSP00000458917.1:n.-55+10848C>T | |
| NM_013402.4:c.1054-109G>A (FADS1) | NP_037534.3:n.1054-109G>A | |
| XM_011545022.1:c.841-109G>A (FADS1) | XP_011543324.1:n.841-109G>A | |
| NM_013402.6:c.1054-109G>A (FADS1) | NP_037534.5:n.1054-109G>A | |
| XM_011545022.2:c.841-109G>A (FADS1) | XP_011543324.1:n.841-109G>A | |
| NM_013402.7:c.1054-109G>A (FADS1) MANE Select | NP_037534.5:n.1054-109G>A |