Linked Data
ClinVar Variation Id:
292587
dbSNP Id:
rs201446793
ExAC:
1:150778652 T / C
gnomAD v2:
1-150778652-T-C
gnomAD v3:
1-150806176-T-C
gnomAD v4:
1-150806176-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150806176T>C , CM000663.2:g.150806176T>C | GRCh38 |
| NC_000001.10:g.150778652T>C , CM000663.1:g.150778652T>C | GRCh37 |
| NC_000001.9:g.149045276T>C | NCBI36 |
| NG_011848.1:g.7161A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.169A>G MANE Select | ENSP00000271651.3:p.Ile57Val | |
| ENST00000443913.2:c.346A>G | ENSP00000405083.2:p.Ile116Val | |
| ENST00000480670.2:n.3238A>G | ||
| ENST00000676680.1:c.169A>G | ENSP00000503270.1:p.Ile57Val | |
| ENST00000676716.1:c.121-160A>G | ENSP00000504737.1:n.121-160A>G | |
| ENST00000676751.1:c.169A>G | ENSP00000502964.1:p.Ile57Val | |
| ENST00000676824.1:c.169A>G | ENSP00000504176.1:p.Ile57Val | |
| ENST00000676966.1:c.169A>G | ENSP00000503723.1:p.Ile57Val | |
| ENST00000676970.1:c.169A>G | ENSP00000503832.1:p.Ile57Val | |
| ENST00000677330.1:n.1995A>G | ||
| ENST00000677887.1:c.211A>G | ENSP00000503876.1:p.Ile71Val | |
| ENST00000678275.1:c.*61A>G | ENSP00000504796.1:n.*61A>G | |
| ENST00000678337.1:c.205A>G | ENSP00000504759.1:p.Ile69Val | |
| ENST00000678725.1:n.1146A>G | ||
| ENST00000679090.1:n.754A>G | ||
| ENST00000679148.1:n.1510A>G | ||
| ENST00000679171.1:n.2530A>G | ||
| ENST00000679260.1:c.169A>G | ENSP00000504534.1:p.Ile57Val | |
| ENST00000271651.7:c.169A>G | ENSP00000271651.3:p.Ile57Val | |
| ENST00000443913.1:c.346A>G | ENSP00000405083.1:p.Ile116Val | |
| ENST00000480670.1:n.84-160A>G | ||
| NM_000396.3:c.169A>G | NP_000387.1:p.Ile57Val | |
| NM_000396.4:c.169A>G MANE Select | NP_000387.1:p.Ile57Val |