gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18151566 (NFE)
Genomes Max Group AF
0.16655387 (NFE)
Exomes Max Group AF
0.18243224 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61828092C>T , CM000673.2:g.61828092C>T | GRCh38 |
| NC_000011.9:g.61595564C>T , CM000673.1:g.61595564C>T | GRCh37 |
| NC_000011.8:g.61352140C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257261.10:c.142-9686C>T (FADS2) | ENSP00000257261.6:n.142-9686C>T | |
| ENST00000278840.8:c.-299C>T (FADS2) | ENSP00000278840.4:n.-299C>T | |
| ENST00000421879.5:c.-49+1109G>A (FADS1) | ENSP00000416043.1:n.-49+1109G>A | |
| ENST00000448607.1:c.-49+358G>A (FADS1) | ENSP00000391229.1:n.-49+358G>A | |
| ENST00000518606.5:c.-160+661C>T (FADS2) | ENSP00000430054.1:n.-160+661C>T | |
| ENST00000522056.5:c.115-9686C>T (FADS2) | ENSP00000429500.1:n.115-9686C>T | |
| NM_001281501.1:c.142-9686C>T (FADS2) | NP_001268430.1:n.142-9686C>T | |
| NM_001281502.1:c.115-9686C>T (FADS2) | NP_001268431.1:n.115-9686C>T | |
| NM_004265.3:c.-299C>T (FADS2) | NP_004256.1:n.-299C>T |