Linked Data
dbSNP Id:
rs174550
gnomAD v2:
11-61571478-T-C
gnomAD v3:
11-61804006-T-C
gnomAD v4:
11-61804006-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61804006T>C , CM000673.2:g.61804006T>C | GRCh38 |
| NC_000011.9:g.61571478T>C , CM000673.1:g.61571478T>C | GRCh37 |
| NC_000011.8:g.61328054T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350997.12:c.1054-239A>G (FADS1) MANE Select | ENSP00000322229.9:n.1054-239A>G | |
| ENST00000350997.11:c.1054-239A>G (FADS1) | ENSP00000322229.9:n.1054-239A>G | |
| ENST00000433932.5:c.631-239A>G (FADS1) | ENSP00000405087.1:n.631-239A>G | |
| ENST00000460649.5:c.-251A>G (FADS1) | ENSP00000445253.1:n.-251A>G | |
| ENST00000496123.6:n.328-239A>G (FADS1) | ||
| ENST00000536991.5:c.127-239A>G (FADS1) | ENSP00000439097.1:n.127-239A>G | |
| ENST00000539999.1:c.241-239A>G (FADS1) | ENSP00000443587.1:n.241-239A>G | |
| ENST00000542506.5:c.631-239A>G (FADS1) | ENSP00000441403.1:n.631-239A>G | |
| ENST00000574708.5:c.-55+10978T>C (FADS2) | ENSP00000458917.1:n.-55+10978T>C | |
| NM_013402.4:c.1054-239A>G (FADS1) | NP_037534.3:n.1054-239A>G | |
| XM_011545022.1:c.841-239A>G (FADS1) | XP_011543324.1:n.841-239A>G | |
| NM_013402.6:c.1054-239A>G (FADS1) | NP_037534.5:n.1054-239A>G | |
| XM_011545022.2:c.841-239A>G (FADS1) | XP_011543324.1:n.841-239A>G | |
| NM_013402.7:c.1054-239A>G (FADS1) MANE Select | NP_037534.5:n.1054-239A>G |