Linked Data
ClinVar Variation Id:
1301424
dbSNP Id:
rs771743242
ExAC:
13:101733910 C / T
gnomAD v2:
13-101733910-C-T
gnomAD v3:
13-101081559-C-T
gnomAD v4:
13-101081559-C-T
COSMIC:
COSM469141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101081559C>T , CM000675.2:g.101081559C>T | GRCh38 |
| NC_000013.10:g.101733910C>T , CM000675.1:g.101733910C>T | GRCh37 |
| NC_000013.9:g.100531911C>T | NCBI36 |
| NG_053176.1:g.340648G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251127.11:c.3853G>A MANE Select | ENSP00000251127.6:p.Val1285Ile | |
| ENST00000648359.1:c.3853G>A | ENSP00000497465.1:p.Val1285Ile | |
| ENST00000675150.1:c.3574G>A | ENSP00000502680.1:p.Val1192Ile | |
| ENST00000675332.1:c.3940G>A | ENSP00000501955.1:p.Val1314Ile | |
| ENST00000676315.1:c.3766G>A | ENSP00000501603.1:p.Val1256Ile | |
| ENST00000251127.10:c.3853G>A | ENSP00000251127.6:p.Val1285Ile | |
| NM_052867.2:c.3853G>A | NP_443099.1:p.Val1285Ile | |
| XM_011521067.1:c.3910G>A | XP_011519369.1:p.Val1304Ile | |
| XM_011521068.1:c.3853G>A | XP_011519370.1:p.Val1285Ile | |
| XM_011521069.1:c.3823G>A | XP_011519371.1:p.Val1275Ile | |
| XM_011521070.1:c.3631G>A | XP_011519372.1:p.Val1211Ile | |
| NM_001350748.1:c.3940G>A | NP_001337677.1:p.Val1314Ile | |
| NM_001350749.1:c.3853G>A | NP_001337678.1:p.Val1285Ile | |
| NM_001350750.1:c.3766G>A | NP_001337679.1:p.Val1256Ile | |
| NM_001350751.1:c.3766G>A | NP_001337680.1:p.Val1256Ile | |
| NM_052867.3:c.3853G>A | NP_443099.1:p.Val1285Ile | |
| XM_011521067.2:c.3910G>A | XP_011519369.1:p.Val1304Ile | |
| XM_011521069.2:c.3823G>A | XP_011519371.1:p.Val1275Ile | |
| XM_017020536.2:c.3406G>A | XP_016876025.1:p.Val1136Ile | |
| XM_017020537.1:c.3088G>A | XP_016876026.1:p.Val1030Ile | |
| XM_024449336.1:c.3997G>A | XP_024305104.1:p.Val1333Ile | |
| NM_052867.4:c.3853G>A MANE Select | NP_443099.1:p.Val1285Ile | |
| NM_001350748.2:c.3940G>A | NP_001337677.1:p.Val1314Ile | |
| NM_001350749.2:c.3853G>A | NP_001337678.1:p.Val1285Ile | |
| NM_001350750.2:c.3766G>A | NP_001337679.1:p.Val1256Ile | |
| NM_001350751.2:c.3766G>A | NP_001337680.1:p.Val1256Ile |