Linked Data
dbSNP Id:
rs99780
gnomAD v2:
11-61596633-C-T
gnomAD v3:
11-61829161-C-T
gnomAD v4:
11-61829161-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61829161C>T , CM000673.2:g.61829161C>T | GRCh38 |
| NC_000011.9:g.61596633C>T , CM000673.1:g.61596633C>T | GRCh37 |
| NC_000011.8:g.61353209C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278840.9:c.207+564C>T (FADS2) MANE Select | ENSP00000278840.4:n.207+564C>T | |
| ENST00000257261.10:c.142-8617C>T (FADS2) | ENSP00000257261.6:n.142-8617C>T | |
| ENST00000278840.8:c.207+564C>T (FADS2) | ENSP00000278840.4:n.207+564C>T | |
| ENST00000421879.5:c.-49+40G>A (FADS1) | ENSP00000416043.1:n.-49+40G>A | |
| ENST00000448607.1:c.-308+40G>A (FADS1) | ENSP00000391229.1:n.-308+40G>A | |
| ENST00000517312.5:c.-160+564C>T (FADS2) | ENSP00000430225.1:n.-160+564C>T | |
| ENST00000518606.5:c.-160+1730C>T (FADS2) | ENSP00000430054.1:n.-160+1730C>T | |
| ENST00000521849.5:c.207+564C>T (FADS2) | ENSP00000431091.1:n.207+564C>T | |
| ENST00000522056.5:c.115-8617C>T (FADS2) | ENSP00000429500.1:n.115-8617C>T | |
| NM_001281501.1:c.142-8617C>T (FADS2) | NP_001268430.1:n.142-8617C>T | |
| NM_001281502.1:c.115-8617C>T (FADS2) | NP_001268431.1:n.115-8617C>T | |
| NM_004265.3:c.207+564C>T (FADS2) | NP_004256.1:n.207+564C>T | |
| XM_011545395.1:c.207+564C>T (FADS2) | XP_011543697.1:n.207+564C>T | |
| NM_004265.4:c.207+564C>T (FADS2) MANE Select | NP_004256.1:n.207+564C>T |