Linked Data
dbSNP Id:
rs174555
gnomAD v2:
11-61579760-T-C
gnomAD v3:
11-61812288-T-C
gnomAD v4:
11-61812288-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61812288T>C , CM000673.2:g.61812288T>C | GRCh38 |
| NC_000011.9:g.61579760T>C , CM000673.1:g.61579760T>C | GRCh37 |
| NC_000011.8:g.61336336T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350997.12:c.684+183A>G (FADS1) MANE Select | ENSP00000322229.9:n.684+183A>G | |
| ENST00000350997.11:c.684+183A>G (FADS1) | ENSP00000322229.9:n.684+183A>G | |
| ENST00000421879.5:c.261+183A>G (FADS1) | ENSP00000416043.1:n.261+183A>G | |
| ENST00000424501.5:c.526+183A>G (FADS1) | ||
| ENST00000433932.5:c.261+183A>G (FADS1) | ENSP00000405087.1:n.261+183A>G | |
| ENST00000466716.5:c.261+183A>G (FADS1) | ENSP00000446270.1:n.261+183A>G | |
| ENST00000491310.5:c.422+183A>G (FADS1) | ||
| ENST00000496123.6:n.7+189A>G (FADS1) | ||
| ENST00000540767.5:c.261+183A>G (FADS1) | ENSP00000441871.1:n.261+183A>G | |
| ENST00000542506.5:c.261+183A>G (FADS1) | ENSP00000441403.1:n.261+183A>G | |
| ENST00000544309.5:c.261+183A>G (FADS1) | ENSP00000439790.1:n.261+183A>G | |
| ENST00000544696.5:c.261+183A>G (FADS1) | ENSP00000443037.1:n.261+183A>G | |
| ENST00000545245.5:c.261+183A>G (FADS1) | ENSP00000442170.1:n.261+183A>G | |
| ENST00000545405.5:c.261+183A>G (FADS1) | ENSP00000440652.1:n.261+183A>G | |
| ENST00000574708.5:c.-54-13744T>C (FADS2) | ENSP00000458917.1:n.-54-13744T>C | |
| NM_013402.4:c.684+183A>G (FADS1) | NP_037534.3:n.684+183A>G | |
| XM_011545022.1:c.471+183A>G (FADS1) | XP_011543324.1:n.471+183A>G | |
| NM_013402.6:c.684+183A>G (FADS1) | NP_037534.5:n.684+183A>G | |
| XM_011545022.2:c.471+183A>G (FADS1) | XP_011543324.1:n.471+183A>G | |
| NM_013402.7:c.684+183A>G (FADS1) MANE Select | NP_037534.5:n.684+183A>G |