Linked Data
ClinVar Variation Id:
9268
dbSNP Id:
rs61759861
ExAC:
12:6483610 C / T
gnomAD v2:
12-6483610-C-T
gnomAD v3:
12-6374444-C-T
gnomAD v4:
12-6374444-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6374444C>T , CM000674.2:g.6374444C>T | GRCh38 |
| NC_000012.11:g.6483610C>T , CM000674.1:g.6483610C>T | GRCh37 |
| NC_000012.10:g.6353871C>T | NCBI36 |
| NG_011945.1:g.7914G>A | |
| NG_033039.1:g.4077C>T | |
| NG_011945.2:g.7914G>A | |
| NG_033039.2:g.4077C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228916.7:c.340G>A MANE Select | ENSP00000228916.2:p.Val114Ile | |
| ENST00000228916.6:c.340G>A | ENSP00000228916.2:p.Val114Ile | |
| ENST00000338748.9:c.340G>A | ENSP00000345028.5:p.Val114Ile | |
| ENST00000360168.7:c.517G>A | ENSP00000353292.3:p.Val173Ile | |
| ENST00000396966.6:c.340G>A | ENSP00000380166.2:p.Val114Ile | |
| ENST00000536176.1:n.421G>A | ||
| ENST00000536788.1:c.403G>A | ENSP00000443434.1:p.Val135Ile | |
| ENST00000538979.5:n.82+909G>A | ||
| ENST00000543585.1:n.476G>A | ||
| ENST00000543768.1:c.409G>A | ENSP00000438739.1:p.Val137Ile | |
| ENST00000544882.1:n.344G>A | ||
| NM_001038.5:c.340G>A | NP_001029.1:p.Val114Ile | |
| NM_001159575.1:c.409G>A | NP_001153047.1:p.Val137Ile | |
| NM_001159576.1:c.517G>A | NP_001153048.1:p.Val173Ile | |
| NM_001038.6:c.340G>A MANE Select | NP_001029.1:p.Val114Ile | |
| NM_001159576.2:c.517G>A | NP_001153048.1:p.Val173Ile | |
| NM_001159575.2:c.409G>A | NP_001153047.1:p.Val137Ile |