Linked Data
ClinVar Variation Id:
320148
ClinVar RCV Id:
RCV000286590
dbSNP Id:
rs886052206
gnomAD v2:
16-66545062-G-A
gnomAD v3:
16-66511159-G-A
gnomAD v4:
16-66511159-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66511159G>A , CM000678.2:g.66511159G>A | GRCh38 |
| NC_000016.9:g.66545062G>A , CM000678.1:g.66545062G>A | GRCh37 |
| NC_000016.8:g.65102563G>A | NCBI36 |
| NG_016862.1:g.44254C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.*809C>T | ENSP00000299697.9:n.*809C>T | |
| ENST00000451102.7:c.*809C>T | ENSP00000414334.4:n.*809C>T | |
| ENST00000527284.6:c.1470C>T | ||
| ENST00000527800.6:c.*809C>T | ENSP00000433770.1:n.*809C>T | |
| ENST00000544898.6:c.*809C>T MANE Select | ENSP00000440898.2:n.*809C>T | |
| ENST00000567357.6:c.*1465C>T | ENSP00000457959.2:n.*1465C>T | |
| ENST00000620035.5:c.*904C>T | ENSP00000483833.2:n.*904C>T | |
| ENST00000677166.1:n.109+799C>T | ||
| ENST00000677319.1:c.109+799C>T | ENSP00000503900.1:n.109+799C>T | |
| ENST00000677420.1:c.*809C>T | ENSP00000504648.1:n.*809C>T | |
| ENST00000677535.1:c.908C>T | ENSP00000502856.1:n.908C>T | |
| ENST00000677555.1:c.*809C>T | ENSP00000503331.1:n.*809C>T | |
| ENST00000677753.1:n.81+2572C>T | ||
| ENST00000678015.1:c.*809C>T | ENSP00000502959.1:n.*809C>T | |
| ENST00000678099.1:c.468-210C>T | ENSP00000504701.1:n.468-210C>T | |
| ENST00000678219.1:c.908C>T | ENSP00000504142.1:n.908C>T | |
| ENST00000678282.1:n.81+2572C>T | ||
| ENST00000678861.1:c.468-225C>T | ENSP00000502932.1:n.468-225C>T | |
| ENST00000299697.11:c.*809C>T | ENSP00000299697.8:n.*809C>T | |
| ENST00000451102.6:c.*809C>T | ENSP00000414334.3:n.*809C>T | |
| ENST00000527284.5:c.*809C>T | ENSP00000435312.1:n.*809C>T | |
| ENST00000527800.5:c.*809C>T | ENSP00000433770.1:n.*809C>T | |
| ENST00000544898.5:c.*809C>T | ENSP00000440898.2:n.*809C>T | |
| ENST00000561527.5:n.258+2572C>T | ||
| ENST00000561728.1:c.148+2572C>T | ||
| ENST00000561905.2:c.54-2388C>T | ||
| ENST00000567357.5:c.*1465C>T | ENSP00000457959.1:n.*1465C>T | |
| ENST00000568170.1:n.90+4C>T | ||
| ENST00000620035.4:c.*809C>T | ENSP00000483833.1:n.*809C>T | |
| NM_001172643.1:c.*809C>T | NP_001166114.1:n.*809C>T | |
| NM_001172644.1:c.*809C>T | NP_001166115.1:n.*809C>T | |
| NM_001172645.1:c.*809C>T | NP_001166116.1:n.*809C>T | |
| NM_001271934.1:c.*809C>T | NP_001258863.1:n.*809C>T | |
| NM_001271935.1:c.*904C>T | NP_001258864.1:n.*904C>T | |
| NM_001272050.1:c.*809C>T | NP_001258979.1:n.*809C>T | |
| NM_004614.4:c.*809C>T | NP_004605.4:n.*809C>T | |
| NR_073520.1:n.2886C>T | ||
| NM_001172644.2:c.*809C>T | NP_001166115.1:n.*809C>T | |
| NM_001271934.2:c.*809C>T | NP_001258863.1:n.*809C>T | |
| NM_001272050.2:c.*809C>T | NP_001258979.1:n.*809C>T | |
| NM_004614.5:c.*809C>T MANE Select | NP_004605.4:n.*809C>T | |
| NR_073520.2:n.2596C>T | ||
| NM_001172645.2:c.*809C>T | NP_001166116.1:n.*809C>T |