Linked Data
ClinVar Variation Id:
2694585
ClinVar RCV Id:
RCV003544205
MyVariant Identifiers:
chr16:g.66547643G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66513740G>A , CM000678.2:g.66513740G>A | GRCh38 |
| NC_000016.9:g.66547643G>A , CM000678.1:g.66547643G>A | GRCh37 |
| NC_000016.8:g.65105144G>A | NCBI36 |
| NG_016862.1:g.41673C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.522C>T | ENSP00000299697.9:p.Ala174= | |
| ENST00000417693.8:c.636C>T | ENSP00000407469.5:p.Ala212= | |
| ENST00000451102.7:c.597C>T | ENSP00000414334.4:p.Ala199= | |
| ENST00000527284.6:c.563-1674C>T | ||
| ENST00000527800.6:c.399C>T | ENSP00000433770.1:p.Ala133= | |
| ENST00000544898.6:c.690C>T MANE Select | ENSP00000440898.2:p.Ala230= | |
| ENST00000567357.6:c.*548C>T | ENSP00000457959.2:n.*548C>T | |
| ENST00000569718.6:c.428C>T | ENSP00000464313.2:p.Pro143Leu | |
| ENST00000620035.5:c.446C>T | ENSP00000483833.2:p.Pro149Leu | |
| ENST00000676538.1:c.273C>T | ||
| ENST00000676904.1:c.161C>T | ||
| ENST00000677296.1:n.72C>T | ||
| ENST00000677379.1:c.331C>T | ENSP00000503672.1:n.331C>T | |
| ENST00000677420.1:c.399C>T | ENSP00000504648.1:p.Ala133= | |
| ENST00000677555.1:c.399C>T | ENSP00000503331.1:p.Ala133= | |
| ENST00000677715.1:c.399C>T | ENSP00000502950.1:p.Ala133= | |
| ENST00000677753.1:n.72C>T | ||
| ENST00000677961.1:n.102C>T | ||
| ENST00000678015.1:c.399C>T | ENSP00000502959.1:p.Ala133= | |
| ENST00000678190.1:c.72C>T | ENSP00000503824.1:p.Ala24= | |
| ENST00000678282.1:n.72C>T | ||
| ENST00000678297.1:c.399C>T | ENSP00000503472.1:p.Ala133= | |
| ENST00000299697.11:c.690C>T | ENSP00000299697.8:p.Ala230= | |
| ENST00000417693.7:c.762C>T | ENSP00000407469.4:p.Ala254= | |
| ENST00000451102.6:c.816C>T | ENSP00000414334.3:p.Ala272= | |
| ENST00000525974.5:c.399C>T | ENSP00000434594.1:p.Ala133= | |
| ENST00000527284.5:c.597C>T | ENSP00000435312.1:p.Ala199= | |
| ENST00000527800.5:c.399C>T | ENSP00000433770.1:p.Ala133= | |
| ENST00000544898.5:c.690C>T | ENSP00000440898.2:p.Ala230= | |
| ENST00000545043.6:c.615C>T | ENSP00000438143.2:p.Ala205= | |
| ENST00000561527.5:n.249C>T | ||
| ENST00000561728.1:c.139C>T | ||
| ENST00000561905.2:c.44C>T | ||
| ENST00000562552.5:n.506C>T | ||
| ENST00000563099.5:n.217C>T | ||
| ENST00000563369.6:c.399C>T | ENSP00000463560.1:p.Ala133= | |
| ENST00000564792.1:n.345C>T | ||
| ENST00000564917.5:c.741C>T | ENSP00000455187.1:p.Ala247= | |
| ENST00000567357.5:c.*548C>T | ENSP00000457959.1:n.*548C>T | |
| ENST00000569718.5:c.415C>T | ||
| ENST00000620035.4:c.636C>T | ENSP00000483833.1:p.Ala212= | |
| NM_001172643.1:c.597C>T | NP_001166114.1:p.Ala199= | |
| NM_001172644.1:c.615C>T | NP_001166115.1:p.Ala205= | |
| NM_001172645.1:c.636C>T | NP_001166116.1:p.Ala212= | |
| NM_001271934.1:c.543C>T | NP_001258863.1:p.Ala181= | |
| NM_001271935.1:c.428C>T | NP_001258864.1:p.Pro143Leu | |
| NM_001272050.1:c.399C>T | NP_001258979.1:p.Ala133= | |
| NM_004614.4:c.690C>T | NP_004605.4:p.Ala230= | |
| NR_073520.1:n.1969C>T | ||
| NM_001172644.2:c.615C>T | NP_001166115.1:p.Ala205= | |
| NM_001271934.2:c.543C>T | NP_001258863.1:p.Ala181= | |
| NM_001272050.2:c.399C>T | NP_001258979.1:p.Ala133= | |
| NM_004614.5:c.690C>T MANE Select | NP_004605.4:p.Ala230= | |
| NR_073520.2:n.1679C>T | ||
| NM_001172645.2:c.636C>T | NP_001166116.1:p.Ala212= |