Linked Data
dbSNP Id:
rs542326074
gnomAD v2:
11-61596489-C-G
gnomAD v3:
11-61829017-C-G
gnomAD v4:
11-61829017-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61829017C>G , CM000673.2:g.61829017C>G | GRCh38 |
| NC_000011.9:g.61596489C>G , CM000673.1:g.61596489C>G | GRCh37 |
| NC_000011.8:g.61353065C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278840.9:c.207+420C>G (FADS2) MANE Select | ENSP00000278840.4:n.207+420C>G | |
| ENST00000257261.10:c.142-8761C>G (FADS2) | ENSP00000257261.6:n.142-8761C>G | |
| ENST00000278840.8:c.207+420C>G (FADS2) | ENSP00000278840.4:n.207+420C>G | |
| ENST00000421879.5:c.-49+184G>C (FADS1) | ENSP00000416043.1:n.-49+184G>C | |
| ENST00000448607.1:c.-308+184G>C (FADS1) | ENSP00000391229.1:n.-308+184G>C | |
| ENST00000517312.5:c.-160+420C>G (FADS2) | ENSP00000430225.1:n.-160+420C>G | |
| ENST00000518606.5:c.-160+1586C>G (FADS2) | ENSP00000430054.1:n.-160+1586C>G | |
| ENST00000521849.5:c.207+420C>G (FADS2) | ENSP00000431091.1:n.207+420C>G | |
| ENST00000522056.5:c.115-8761C>G (FADS2) | ENSP00000429500.1:n.115-8761C>G | |
| NM_001281501.1:c.142-8761C>G (FADS2) | NP_001268430.1:n.142-8761C>G | |
| NM_001281502.1:c.115-8761C>G (FADS2) | NP_001268431.1:n.115-8761C>G | |
| NM_004265.3:c.207+420C>G (FADS2) | NP_004256.1:n.207+420C>G | |
| XM_011545395.1:c.207+420C>G (FADS2) | XP_011543697.1:n.207+420C>G | |
| NM_004265.4:c.207+420C>G (FADS2) MANE Select | NP_004256.1:n.207+420C>G |