Linked Data
ClinVar Variation Id:
320157
ClinVar RCV Id:
RCV000263543
dbSNP Id:
rs886052210
gnomAD v2:
16-66551793-T-C
gnomAD v4:
16-66517890-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66517890T>C , CM000678.2:g.66517890T>C | GRCh38 |
| NC_000016.9:g.66551793T>C , CM000678.1:g.66551793T>C | GRCh37 |
| NC_000016.8:g.65109294T>C | NCBI36 |
| NG_016862.1:g.37523A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.282-13A>G | ENSP00000299697.9:n.282-13A>G | |
| ENST00000417693.8:c.396-13A>G | ENSP00000407469.5:n.396-13A>G | |
| ENST00000451102.7:c.357-13A>G | ENSP00000414334.4:n.357-13A>G | |
| ENST00000527284.6:c.394-13A>G | ||
| ENST00000527800.6:c.159-13A>G | ENSP00000433770.1:n.159-13A>G | |
| ENST00000544898.6:c.450-13A>G MANE Select | ENSP00000440898.2:n.450-13A>G | |
| ENST00000567357.6:c.*308-13A>G | ENSP00000457959.2:n.*308-13A>G | |
| ENST00000569718.6:c.357-4079A>G | ENSP00000464313.2:n.357-4079A>G | |
| ENST00000620035.5:c.375-4079A>G | ENSP00000483833.2:n.375-4079A>G | |
| ENST00000676538.1:c.33-13A>G | ||
| ENST00000676718.1:n.31-13A>G | ||
| ENST00000677379.1:c.91-13A>G | ENSP00000503672.1:n.91-13A>G | |
| ENST00000677420.1:c.159-13A>G | ENSP00000504648.1:n.159-13A>G | |
| ENST00000677555.1:c.159-13A>G | ENSP00000503331.1:n.159-13A>G | |
| ENST00000677715.1:c.159-13A>G | ENSP00000502950.1:n.159-13A>G | |
| ENST00000678015.1:c.159-13A>G | ENSP00000502959.1:n.159-13A>G | |
| ENST00000678297.1:c.159-13A>G | ENSP00000503472.1:n.159-13A>G | |
| ENST00000678314.1:c.159-13A>G | ENSP00000504438.1:n.159-13A>G | |
| ENST00000679306.1:n.31-13A>G | ||
| ENST00000299697.11:c.450-13A>G | ENSP00000299697.8:n.450-13A>G | |
| ENST00000417693.7:c.522-13A>G | ENSP00000407469.4:n.522-13A>G | |
| ENST00000451102.6:c.576-13A>G | ENSP00000414334.3:n.576-13A>G | |
| ENST00000525974.5:c.159-13A>G | ENSP00000434594.1:n.159-13A>G | |
| ENST00000527284.5:c.357-13A>G | ENSP00000435312.1:n.357-13A>G | |
| ENST00000527800.5:c.159-13A>G | ENSP00000433770.1:n.159-13A>G | |
| ENST00000544898.5:c.450-13A>G | ENSP00000440898.2:n.450-13A>G | |
| ENST00000545043.6:c.375-13A>G | ENSP00000438143.2:n.375-13A>G | |
| ENST00000562484.2:c.159-13A>G | ENSP00000463326.1:n.159-13A>G | |
| ENST00000562552.5:n.253A>G | ||
| ENST00000563369.6:c.159-13A>G | ENSP00000463560.1:n.159-13A>G | |
| ENST00000563478.5:c.159-13A>G | ENSP00000462341.1:n.159-13A>G | |
| ENST00000564792.1:n.105-13A>G | ||
| ENST00000564917.5:c.450-13A>G | ENSP00000455187.1:n.450-13A>G | |
| ENST00000567357.5:c.*308-13A>G | ENSP00000457959.1:n.*308-13A>G | |
| ENST00000569718.5:c.344-4079A>G | ||
| ENST00000620035.4:c.396-13A>G | ENSP00000483833.1:n.396-13A>G | |
| NM_001172643.1:c.357-13A>G | NP_001166114.1:n.357-13A>G | |
| NM_001172644.1:c.375-13A>G | NP_001166115.1:n.375-13A>G | |
| NM_001172645.1:c.396-13A>G | NP_001166116.1:n.396-13A>G | |
| NM_001271934.1:c.303-13A>G | NP_001258863.1:n.303-13A>G | |
| NM_001271935.1:c.357-4079A>G | NP_001258864.1:n.357-4079A>G | |
| NM_001272050.1:c.159-13A>G | NP_001258979.1:n.159-13A>G | |
| NM_004614.4:c.450-13A>G | NP_004605.4:n.450-13A>G | |
| NR_073520.1:n.1729-13A>G | ||
| NM_001172644.2:c.375-13A>G | NP_001166115.1:n.375-13A>G | |
| NM_001271934.2:c.303-13A>G | NP_001258863.1:n.303-13A>G | |
| NM_001272050.2:c.159-13A>G | NP_001258979.1:n.159-13A>G | |
| NM_004614.5:c.450-13A>G MANE Select | NP_004605.4:n.450-13A>G | |
| NR_073520.2:n.1439-13A>G | ||
| NM_001172645.2:c.396-13A>G | NP_001166116.1:n.396-13A>G |