Linked Data
ClinVar Variation Id:
239151
dbSNP Id:
rs750459929
ExAC:
14:65543280 C / T
gnomAD v2:
14-65543280-C-T
gnomAD v3:
14-65076562-C-T
gnomAD v4:
14-65076562-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076562C>T , CM000676.2:g.65076562C>T | GRCh38 |
| NC_000014.8:g.65543280C>T , CM000676.1:g.65543280C>T | GRCh37 |
| NC_000014.7:g.64613033C>T | NCBI36 |
| NG_029830.1:g.30948G>A , LRG_530:g.30948G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.178G>A | ENSP00000452206.2:p.Ala60Thr | |
| ENST00000556979.6:c.*850G>A | ENSP00000452378.1:n.*850G>A | |
| ENST00000358664.9:c.397G>A MANE Select | ENSP00000351490.4:p.Ala133Thr | |
| ENST00000651648.1:c.145-6193G>A | ENSP00000498863.1:n.145-6193G>A | |
| ENST00000284165.10:c.*1241G>A | ENSP00000284165.6:n.*1241G>A | |
| ENST00000341653.6:c.171+17146G>A | ENSP00000342482.2:n.171+17146G>A | |
| ENST00000358402.8:c.370G>A | ENSP00000351175.4:p.Ala124Thr | |
| ENST00000358664.8:c.397G>A | ENSP00000351490.4:p.Ala133Thr | |
| ENST00000394606.6:c.*170G>A | ENSP00000378104.2:n.*170G>A | |
| ENST00000553928.5:c.*186G>A | ENSP00000451907.1:n.*186G>A | |
| ENST00000555419.5:c.289G>A | ENSP00000452405.1:p.Ala97Thr | |
| ENST00000555932.5:c.138G>A | ENSP00000450763.1:p.Leu46= | |
| ENST00000557277.5:c.208G>A | ENSP00000450955.1:p.Ala70Thr | |
| ENST00000618858.4:c.*186G>A | ENSP00000480127.1:n.*186G>A | |
| NM_001271069.1:c.144+17146G>A | NP_001257998.1:n.144+17146G>A | |
| NM_002382.4:c.397G>A | NP_002373.3:p.Ala133Thr | |
| NM_145112.2:c.370G>A | NP_660087.1:p.Ala124Thr | |
| NM_145113.2:c.*186G>A | NP_660088.1:n.*186G>A | |
| NM_197957.3:c.171+17146G>A | NP_932061.1:n.171+17146G>A | |
| NR_073137.1:n.521G>A | ||
| XR_429315.2:n.684G>A | ||
| NM_001320415.1:c.208G>A | NP_001307344.1:p.Ala70Thr | |
| XM_017021312.2:c.208G>A | XP_016876801.1:p.Ala70Thr | |
| XM_017021313.1:c.208G>A | XP_016876802.1:p.Ala70Thr | |
| XR_001750326.2:n.742G>A | ||
| XR_001750327.2:n.661G>A | ||
| XR_002957553.1:n.1175G>A | ||
| XR_943450.3:n.765G>A | ||
| XR_943451.3:n.781G>A | ||
| XR_943452.3:n.726G>A | ||
| NM_001320415.2:c.208G>A | NP_001307344.1:p.Ala70Thr | |
| NM_002382.5:c.397G>A MANE Select | NP_002373.3:p.Ala133Thr | |
| NM_145112.3:c.370G>A | NP_660087.1:p.Ala124Thr | |
| NM_145113.3:c.*186G>A | NP_660088.1:n.*186G>A | |
| NM_001271069.2:c.144+17146G>A | NP_001257998.1:n.144+17146G>A | |
| NM_197957.4:c.171+17146G>A | NP_932061.1:n.171+17146G>A |