Linked Data
ClinVar Variation Id:
421774
dbSNP Id:
rs375340441
ExAC:
20:61981802 T / C
gnomAD v2:
20-61981802-T-C
gnomAD v3:
20-63350450-T-C
gnomAD v4:
20-63350450-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350450T>C , CM000682.2:g.63350450T>C | GRCh38 |
| NC_000020.10:g.61981802T>C , CM000682.1:g.61981802T>C | GRCh37 |
| NC_000020.9:g.61452246T>C | NCBI36 |
| NG_011931.1:g.15894A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.961A>G MANE Select | ENSP00000359285.4:p.Ile321Val | |
| ENST00000370263.8:c.961A>G | ENSP00000359285.4:p.Ile321Val | |
| ENST00000463705.5:n.1609A>G | ||
| ENST00000467563.3:n.1031A>G | ||
| ENST00000498043.6:c.985A>G | ||
| ENST00000615287.4:c.748A>G | ENSP00000483388.1:p.Ile250Val | |
| ENST00000627000.1:c.*650A>G | ENSP00000486914.1:n.*650A>G | |
| ENST00000630240.1:n.682A>G | ||
| NM_000744.6:c.961A>G | NP_000735.1:p.Ile321Val | |
| NM_001256573.1:c.433A>G | NP_001243502.1:p.Ile145Val | |
| NR_046317.1:n.1217A>G | ||
| XM_011528524.1:c.748A>G | XP_011526826.1:p.Ile250Val | |
| XM_017027625.2:c.433A>G | XP_016883114.1:p.Ile145Val | |
| XM_024451822.1:c.433A>G | XP_024307590.1:p.Ile145Val | |
| NM_001256573.2:c.433A>G | NP_001243502.1:p.Ile145Val | |
| NR_046317.2:n.1170A>G | ||
| NM_000744.7:c.961A>G MANE Select | NP_000735.1:p.Ile321Val |