gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53619883 (EAS)
Genomes Max Group AF
0.53619883 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61807686A>G , CM000673.2:g.61807686A>G | GRCh38 |
| NC_000011.9:g.61575158A>G , CM000673.1:g.61575158A>G | GRCh37 |
| NC_000011.8:g.61331734A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350997.12:c.916-962T>C (FADS1) MANE Select | ENSP00000322229.9:n.916-962T>C | |
| ENST00000350997.11:c.916-962T>C (FADS1) | ENSP00000322229.9:n.916-962T>C | |
| ENST00000433932.5:c.493-962T>C (FADS1) | ENSP00000405087.1:n.493-962T>C | |
| ENST00000496123.6:n.263-2937T>C (FADS1) | ||
| ENST00000539999.1:c.103-962T>C (FADS1) | ENSP00000443587.1:n.103-962T>C | |
| ENST00000542506.5:c.493-962T>C (FADS1) | ENSP00000441403.1:n.493-962T>C | |
| ENST00000574708.5:c.-55+14658A>G (FADS2) | ENSP00000458917.1:n.-55+14658A>G | |
| NM_013402.4:c.916-962T>C (FADS1) | NP_037534.3:n.916-962T>C | |
| XM_011545022.1:c.703-962T>C (FADS1) | XP_011543324.1:n.703-962T>C | |
| NM_013402.6:c.916-962T>C (FADS1) | NP_037534.5:n.916-962T>C | |
| XM_011545022.2:c.703-962T>C (FADS1) | XP_011543324.1:n.703-962T>C | |
| NM_013402.7:c.916-962T>C (FADS1) MANE Select | NP_037534.5:n.916-962T>C |