Linked Data
ClinVar Variation Id:
313819
dbSNP Id:
rs201743423
ExAC:
14:65569033 C / A
gnomAD v2:
14-65569033-C-A
gnomAD v3:
14-65102315-C-A
gnomAD v4:
14-65102315-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65102315C>A , CM000676.2:g.65102315C>A | GRCh38 |
| NC_000014.8:g.65569033C>A , CM000676.1:g.65569033C>A | GRCh37 |
| NC_000014.7:g.64638786C>A | NCBI36 |
| NG_029830.1:g.5195G>T , LRG_530:g.5195G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.-157+194G>T | ENSP00000452206.2:n.-157+194G>T | |
| ENST00000556979.6:c.25G>T | ENSP00000452378.1:p.Val9Leu | |
| ENST00000358664.9:c.25G>T MANE Select | ENSP00000351490.4:p.Val9Leu | |
| ENST00000651648.1:c.25G>T | ENSP00000498863.1:p.Val9Leu | |
| ENST00000246163.2:c.25G>T | ENSP00000246163.2:p.Val9Leu | |
| ENST00000284165.10:c.25G>T | ENSP00000284165.6:p.Val9Leu | |
| ENST00000341653.6:c.25G>T | ENSP00000342482.2:p.Val9Leu | |
| ENST00000358402.8:c.25G>T | ENSP00000351175.4:p.Val9Leu | |
| ENST00000358664.8:c.25G>T | ENSP00000351490.4:p.Val9Leu | |
| ENST00000394606.6:c.25G>T | ENSP00000378104.2:p.Val9Leu | |
| ENST00000553928.5:c.25G>T | ENSP00000451907.1:p.Val9Leu | |
| ENST00000554709.1:n.203G>T | ||
| ENST00000555419.5:c.25G>T | ENSP00000452405.1:p.Val9Leu | |
| ENST00000555667.5:c.25G>T | ENSP00000452286.1:p.Val9Leu | |
| ENST00000555932.5:c.25G>T | ENSP00000450763.1:p.Val9Leu | |
| ENST00000556443.5:c.25G>T | ENSP00000450818.1:p.Val9Leu | |
| ENST00000556702.1:n.164G>T | ||
| ENST00000556892.5:c.-157+194G>T | ENSP00000452206.1:n.-157+194G>T | |
| ENST00000556979.5:c.25G>T | ENSP00000452378.1:p.Val9Leu | |
| ENST00000557277.5:c.-239+194G>T | ENSP00000450955.1:n.-239+194G>T | |
| ENST00000557746.5:c.25G>T | ENSP00000452197.1:p.Val9Leu | |
| ENST00000618858.4:c.25G>T | ENSP00000480127.1:p.Val9Leu | |
| NM_001271068.1:c.25G>T | NP_001257997.1:p.Val9Leu | |
| NM_001271069.1:c.25G>T | NP_001257998.1:p.Val9Leu | |
| NM_002382.4:c.25G>T | NP_002373.3:p.Val9Leu | |
| NM_145112.2:c.25G>T | NP_660087.1:p.Val9Leu | |
| NM_145113.2:c.25G>T | NP_660088.1:p.Val9Leu | |
| NM_145114.2:c.25G>T | NP_660089.1:p.Val9Leu | |
| NM_197957.3:c.25G>T | NP_932061.1:p.Val9Leu | |
| NR_073137.1:n.187+194G>T | ||
| NR_073138.1:n.187+194G>T | ||
| XM_011536773.1:c.25G>T | XP_011535075.1:p.Val9Leu | |
| XR_429315.2:n.227G>T | ||
| XR_943450.1:n.227G>T | ||
| XR_943451.1:n.227G>T | ||
| XR_943452.1:n.216G>T | ||
| NM_001320415.1:c.-250G>T | NP_001307344.1:n.-250G>T | |
| XM_011536773.3:c.25G>T | XP_011535075.1:p.Val9Leu | |
| XM_017021312.2:c.-223G>T | XP_016876801.1:n.-223G>T | |
| XR_001750326.2:n.215G>T | ||
| XR_001750327.2:n.215G>T | ||
| XR_002957553.1:n.218G>T | ||
| XR_943450.3:n.227G>T | ||
| XR_943451.3:n.227G>T | ||
| XR_943452.3:n.215G>T | ||
| NM_001320415.2:c.-250G>T | NP_001307344.1:n.-250G>T | |
| NM_002382.5:c.25G>T MANE Select | NP_002373.3:p.Val9Leu | |
| NM_145112.3:c.25G>T | NP_660087.1:p.Val9Leu | |
| NM_145113.3:c.25G>T | NP_660088.1:p.Val9Leu | |
| NM_001271068.2:c.25G>T | NP_001257997.1:p.Val9Leu | |
| NM_001271069.2:c.25G>T | NP_001257998.1:p.Val9Leu | |
| NM_145114.3:c.25G>T | NP_660089.1:p.Val9Leu | |
| NM_197957.4:c.25G>T | NP_932061.1:p.Val9Leu |