Linked Data
dbSNP Id:
rs174556
gnomAD v2:
11-61580635-C-T
gnomAD v3:
11-61813163-C-T
gnomAD v4:
11-61813163-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61813163C>T , CM000673.2:g.61813163C>T | GRCh38 |
| NC_000011.9:g.61580635C>T , CM000673.1:g.61580635C>T | GRCh37 |
| NC_000011.8:g.61337211C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350997.12:c.486+80G>A (FADS1) MANE Select | ENSP00000322229.9:n.486+80G>A | |
| ENST00000350997.11:c.486+80G>A (FADS1) | ENSP00000322229.9:n.486+80G>A | |
| ENST00000421879.5:c.63+80G>A (FADS1) | ENSP00000416043.1:n.63+80G>A | |
| ENST00000424501.5:c.328+80G>A (FADS1) | ||
| ENST00000433932.5:c.63+80G>A (FADS1) | ENSP00000405087.1:n.63+80G>A | |
| ENST00000448607.1:c.63+80G>A (FADS1) | ENSP00000391229.1:n.63+80G>A | |
| ENST00000466716.5:c.63+80G>A (FADS1) | ENSP00000446270.1:n.63+80G>A | |
| ENST00000491310.5:c.225-495G>A (FADS1) | ||
| ENST00000539419.5:c.63+80G>A (FADS1) | ENSP00000438997.1:n.63+80G>A | |
| ENST00000540767.5:c.63+80G>A (FADS1) | ENSP00000441871.1:n.63+80G>A | |
| ENST00000542506.5:c.63+80G>A (FADS1) | ENSP00000441403.1:n.63+80G>A | |
| ENST00000544309.5:c.63+80G>A (FADS1) | ENSP00000439790.1:n.63+80G>A | |
| ENST00000544696.5:c.63+80G>A (FADS1) | ENSP00000443037.1:n.63+80G>A | |
| ENST00000545245.5:c.63+80G>A (FADS1) | ENSP00000442170.1:n.63+80G>A | |
| ENST00000545405.5:c.63+80G>A (FADS1) | ENSP00000440652.1:n.63+80G>A | |
| ENST00000574708.5:c.-54-12869C>T (FADS2) | ENSP00000458917.1:n.-54-12869C>T | |
| NM_013402.4:c.486+80G>A (FADS1) | NP_037534.3:n.486+80G>A | |
| XM_011545022.1:c.273+80G>A (FADS1) | XP_011543324.1:n.273+80G>A | |
| NM_013402.6:c.486+80G>A (FADS1) | NP_037534.5:n.486+80G>A | |
| XM_011545022.2:c.273+80G>A (FADS1) | XP_011543324.1:n.273+80G>A | |
| NM_013402.7:c.486+80G>A (FADS1) MANE Select | NP_037534.5:n.486+80G>A |