Linked Data
ClinVar Variation Id:
18047
dbSNP Id:
rs116929575
ExAC:
14:95090119 A / G
gnomAD v2:
14-95090119-A-G
gnomAD v3:
14-94623782-A-G
gnomAD v4:
14-94623782-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94623782A>G , CM000676.2:g.94623782A>G | GRCh38 |
| NC_000014.8:g.95090119A>G , CM000676.1:g.95090119A>G | GRCh37 |
| NC_000014.7:g.94159872A>G | NCBI36 |
| NG_012879.1:g.16406A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393078.5:c.1240A>G MANE Select | ENSP00000376793.3:p.Met414Val | |
| ENST00000393078.4:c.1240A>G | ENSP00000376793.3:p.Met414Val | |
| ENST00000393080.8:c.1240A>G | ENSP00000376795.4:p.Met414Val | |
| ENST00000467132.5:c.1240A>G | ENSP00000450540.1:p.Met414Val | |
| ENST00000482740.2:c.586A>G | ENSP00000451119.1:p.Met196Val | |
| ENST00000553947.1:c.2203A>G | ||
| ENST00000556968.2:c.*315A>G | ENSP00000452476.1:n.*315A>G | |
| NM_001085.4:c.1240A>G | NP_001076.2:p.Met414Val | |
| NM_001085.5:c.1240A>G MANE Select | NP_001076.2:p.Met414Val | |
| NM_001384672.1:c.1240A>G | NP_001371601.1:p.Met414Val | |
| NM_001384673.1:c.1240A>G | NP_001371602.1:p.Met414Val | |
| NM_001384674.1:c.1240A>G | NP_001371603.1:p.Met414Val |