COSMIC:
COSN26731607
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58365012 (AMR)
Genomes Max Group AF
0.53697989 (EAS)
Exomes Max Group AF
0.62561784 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61802358C>T , CM000673.2:g.61802358C>T | GRCh38 |
| NC_000011.9:g.61569830C>T , CM000673.1:g.61569830C>T | GRCh37 |
| NC_000011.8:g.61326406C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350997.12:c.*53G>A (FADS1) MANE Select | ENSP00000322229.9:n.*53G>A | |
| ENST00000350997.11:c.*53G>A (FADS1) | ENSP00000322229.9:n.*53G>A | |
| ENST00000433932.5:c.*53G>A (FADS1) | ENSP00000405087.1:n.*53G>A | |
| ENST00000460649.5:c.*53G>A (FADS1) | ENSP00000445253.1:n.*53G>A | |
| ENST00000536991.5:c.*53G>A (FADS1) | ENSP00000439097.1:n.*53G>A | |
| ENST00000542506.5:c.*53G>A (FADS1) | ENSP00000441403.1:n.*53G>A | |
| ENST00000574708.5:c.-55+9330C>T (FADS2) | ENSP00000458917.1:n.-55+9330C>T | |
| NM_013402.4:c.*53G>A (FADS1) | NP_037534.3:n.*53G>A | |
| XM_011545022.1:c.*53G>A (FADS1) | XP_011543324.1:n.*53G>A | |
| NM_013402.6:c.*53G>A (FADS1) | NP_037534.5:n.*53G>A | |
| XM_011545022.2:c.*53G>A (FADS1) | XP_011543324.1:n.*53G>A | |
| NM_013402.7:c.*53G>A (FADS1) MANE Select | NP_037534.5:n.*53G>A |