Linked Data
ClinVar Variation Id:
229238
dbSNP Id:
rs149484264
ExAC:
12:6463942 G / T
gnomAD v2:
12-6463942-G-T
gnomAD v3:
12-6354776-G-T
gnomAD v4:
12-6354776-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6354776G>T , CM000674.2:g.6354776G>T | GRCh38 |
| NC_000012.11:g.6463942G>T , CM000674.1:g.6463942G>T | GRCh37 |
| NC_000012.10:g.6334203G>T | NCBI36 |
| NG_011945.1:g.27582C>A | |
| NG_011945.2:g.27582C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.1216C>A MANE Select | ENSP00000228916.2:p.Leu406Ile | |
| ENST00000228916.6:c.1216C>A | ENSP00000228916.2:p.Leu406Ile | |
| ENST00000338748.9:c.*287C>A | ENSP00000345028.5:n.*287C>A | |
| ENST00000360168.7:c.1393C>A | ENSP00000353292.3:p.Leu465Ile | |
| ENST00000366131.6:n.238C>A | ||
| ENST00000396966.6:c.1216C>A | ENSP00000380166.2:p.Leu406Ile | |
| ENST00000538979.5:n.625C>A | ||
| ENST00000539030.5:n.138C>A | ||
| ENST00000540037.5:c.316C>A | ENSP00000440876.1:p.Leu106Ile | |
| ENST00000541249.5:n.406C>A | ||
| ENST00000543768.1:c.1285C>A | ENSP00000438739.1:p.Leu429Ile | |
| NM_001038.5:c.1216C>A | NP_001029.1:p.Leu406Ile | |
| NM_001159575.1:c.1285C>A | NP_001153047.1:p.Leu429Ile | |
| NM_001159576.1:c.1393C>A | NP_001153048.1:p.Leu465Ile | |
| XR_001748984.1:n.554-749G>T | ||
| NM_001038.6:c.1216C>A MANE Select | NP_001029.1:p.Leu406Ile | |
| NM_001159576.2:c.1393C>A | NP_001153048.1:p.Leu465Ile | |
| NM_001159575.2:c.1285C>A | NP_001153047.1:p.Leu429Ile |