Linked Data
ClinVar Variation Id:
474990
dbSNP Id:
rs201002323
ExAC:
2:197737745 T / C
gnomAD v2:
2-197737745-T-C
gnomAD v3:
2-196873021-T-C
gnomAD v4:
2-196873021-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.196873021T>C , CM000664.2:g.196873021T>C | GRCh38 |
| NC_000002.11:g.197737745T>C , CM000664.1:g.197737745T>C | GRCh37 |
| NC_000002.10:g.197445990T>C | NCBI36 |
| NG_046780.1:g.58975A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354764.9:c.1558A>G MANE Select | ENSP00000346809.3:p.Ile520Val | |
| ENST00000354764.8:c.1558A>G | ENSP00000346809.3:p.Ile520Val | |
| ENST00000409475.5:c.1558A>G | ENSP00000387028.1:p.Ile520Val | |
| ENST00000423035.5:c.*1489A>G | ENSP00000415405.1:n.*1489A>G | |
| ENST00000470179.5:n.1022A>G | ||
| ENST00000476250.5:n.330A>G | ||
| ENST00000482051.5:n.479A>G | ||
| NM_024989.3:c.1558A>G | NP_079265.2:p.Ile520Val | |
| XM_011511878.1:c.1558A>G | XP_011510180.1:p.Ile520Val | |
| XM_011511879.1:c.1036A>G | XP_011510181.1:p.Ile346Val | |
| XM_011511880.1:c.1558A>G | XP_011510182.1:p.Ile520Val | |
| NM_001321099.1:c.1036A>G | NP_001308028.1:p.Ile346Val | |
| NM_001321100.1:c.391A>G | NP_001308029.1:p.Ile131Val | |
| XM_017004992.1:c.1036A>G | XP_016860481.1:p.Ile346Val | |
| XM_017004993.1:c.1036A>G | XP_016860482.1:p.Ile346Val | |
| XM_017004994.1:c.391A>G | XP_016860483.1:p.Ile131Val | |
| XM_024453156.1:c.391A>G | XP_024308924.1:p.Ile131Val | |
| XR_001738959.1:n.1937A>G | ||
| NM_024989.4:c.1558A>G MANE Select | NP_079265.2:p.Ile520Val | |
| NM_001321099.2:c.1036A>G | NP_001308028.1:p.Ile346Val | |
| NM_001321100.2:c.391A>G | NP_001308029.1:p.Ile131Val |