Linked Data
ClinVar Variation Id:
1413506
ClinVar RCV Id:
RCV001925988
dbSNP Id:
rs750058780
ExAC:
16:66547648 C / G
gnomAD v2:
16-66547648-C-G
gnomAD v4:
16-66513745-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66513745C>G , CM000678.2:g.66513745C>G | GRCh38 |
| NC_000016.9:g.66547648C>G , CM000678.1:g.66547648C>G | GRCh37 |
| NC_000016.8:g.65105149C>G | NCBI36 |
| NG_016862.1:g.41668G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.517G>C | ENSP00000299697.9:p.Ala173Pro | |
| ENST00000417693.8:c.631G>C | ENSP00000407469.5:p.Ala211Pro | |
| ENST00000451102.7:c.592G>C | ENSP00000414334.4:p.Ala198Pro | |
| ENST00000527284.6:c.563-1679G>C | ||
| ENST00000527800.6:c.394G>C | ENSP00000433770.1:p.Ala132Pro | |
| ENST00000544898.6:c.685G>C MANE Select | ENSP00000440898.2:p.Ala229Pro | |
| ENST00000567357.6:c.*543G>C | ENSP00000457959.2:n.*543G>C | |
| ENST00000569718.6:c.423G>C | ENSP00000464313.2:p.Trp141Cys | |
| ENST00000620035.5:c.441G>C | ENSP00000483833.2:p.Trp147Cys | |
| ENST00000676538.1:c.268G>C | ||
| ENST00000676904.1:c.156G>C | ||
| ENST00000677296.1:n.67G>C | ||
| ENST00000677379.1:c.326G>C | ENSP00000503672.1:n.326G>C | |
| ENST00000677420.1:c.394G>C | ENSP00000504648.1:p.Ala132Pro | |
| ENST00000677555.1:c.394G>C | ENSP00000503331.1:p.Ala132Pro | |
| ENST00000677715.1:c.394G>C | ENSP00000502950.1:p.Ala132Pro | |
| ENST00000677753.1:n.67G>C | ||
| ENST00000677961.1:n.97G>C | ||
| ENST00000678015.1:c.394G>C | ENSP00000502959.1:p.Ala132Pro | |
| ENST00000678190.1:c.67G>C | ENSP00000503824.1:p.Ala23Pro | |
| ENST00000678282.1:n.67G>C | ||
| ENST00000678297.1:c.394G>C | ENSP00000503472.1:p.Ala132Pro | |
| ENST00000299697.11:c.685G>C | ENSP00000299697.8:p.Ala229Pro | |
| ENST00000417693.7:c.757G>C | ENSP00000407469.4:p.Ala253Pro | |
| ENST00000451102.6:c.811G>C | ENSP00000414334.3:p.Ala271Pro | |
| ENST00000525974.5:c.394G>C | ENSP00000434594.1:p.Ala132Pro | |
| ENST00000527284.5:c.592G>C | ENSP00000435312.1:p.Ala198Pro | |
| ENST00000527800.5:c.394G>C | ENSP00000433770.1:p.Ala132Pro | |
| ENST00000544898.5:c.685G>C | ENSP00000440898.2:p.Ala229Pro | |
| ENST00000545043.6:c.610G>C | ENSP00000438143.2:p.Ala204Pro | |
| ENST00000561527.5:n.244G>C | ||
| ENST00000561728.1:c.134G>C | ||
| ENST00000561905.2:c.39G>C | ||
| ENST00000562552.5:n.501G>C | ||
| ENST00000563099.5:n.212G>C | ||
| ENST00000563369.6:c.394G>C | ENSP00000463560.1:p.Ala132Pro | |
| ENST00000564792.1:n.340G>C | ||
| ENST00000564917.5:c.736G>C | ENSP00000455187.1:p.Ala246Pro | |
| ENST00000567357.5:c.*543G>C | ENSP00000457959.1:n.*543G>C | |
| ENST00000569718.5:c.410G>C | ||
| ENST00000620035.4:c.631G>C | ENSP00000483833.1:p.Ala211Pro | |
| NM_001172643.1:c.592G>C | NP_001166114.1:p.Ala198Pro | |
| NM_001172644.1:c.610G>C | NP_001166115.1:p.Ala204Pro | |
| NM_001172645.1:c.631G>C | NP_001166116.1:p.Ala211Pro | |
| NM_001271934.1:c.538G>C | NP_001258863.1:p.Ala180Pro | |
| NM_001271935.1:c.423G>C | NP_001258864.1:p.Trp141Cys | |
| NM_001272050.1:c.394G>C | NP_001258979.1:p.Ala132Pro | |
| NM_004614.4:c.685G>C | NP_004605.4:p.Ala229Pro | |
| NR_073520.1:n.1964G>C | ||
| NM_001172644.2:c.610G>C | NP_001166115.1:p.Ala204Pro | |
| NM_001271934.2:c.538G>C | NP_001258863.1:p.Ala180Pro | |
| NM_001272050.2:c.394G>C | NP_001258979.1:p.Ala132Pro | |
| NM_004614.5:c.685G>C MANE Select | NP_004605.4:p.Ala229Pro | |
| NR_073520.2:n.1674G>C | ||
| NM_001172645.2:c.631G>C | NP_001166116.1:p.Ala211Pro |