Linked Data
ClinVar Variation Id:
137668
dbSNP Id:
rs187517309
ExAC:
16:66575772 G / A
gnomAD v2:
16-66575772-G-A
gnomAD v3:
16-66541869-G-A
gnomAD v4:
16-66541869-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66541869G>A , CM000678.2:g.66541869G>A | GRCh38 |
| NC_000016.9:g.66575772G>A , CM000678.1:g.66575772G>A | GRCh37 |
| NC_000016.8:g.65133273G>A | NCBI36 |
| NG_016862.1:g.13544C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.64-4852C>T | ENSP00000299697.9:n.64-4852C>T | |
| ENST00000417693.8:c.231+10C>T | ENSP00000407469.5:n.231+10C>T | |
| ENST00000451102.7:c.138+10C>T | ENSP00000414334.4:n.138+10C>T | |
| ENST00000527284.6:c.175+10C>T | ||
| ENST00000527800.6:c.-61+10C>T | ENSP00000433770.1:n.-61+10C>T | |
| ENST00000544898.6:c.231+10C>T MANE Select | ENSP00000440898.2:n.231+10C>T | |
| ENST00000567357.6:c.*89+10C>T | ENSP00000457959.2:n.*89+10C>T | |
| ENST00000569718.6:c.138+10C>T | ENSP00000464313.2:n.138+10C>T | |
| ENST00000620035.5:c.157-4852C>T | ENSP00000483833.2:n.157-4852C>T | |
| ENST00000676536.1:c.187+10C>T | ||
| ENST00000676538.1:c.32+7109C>T | ||
| ENST00000677420.1:c.-7+10C>T | ENSP00000504648.1:n.-7+10C>T | |
| ENST00000677541.1:c.224+10C>T | ||
| ENST00000677555.1:c.-60-4852C>T | ENSP00000503331.1:n.-60-4852C>T | |
| ENST00000677715.1:c.-61+10C>T | ENSP00000502950.1:n.-61+10C>T | |
| ENST00000678015.1:c.-61+10C>T | ENSP00000502959.1:n.-61+10C>T | |
| ENST00000678297.1:c.-60-4852C>T | ENSP00000503472.1:n.-60-4852C>T | |
| ENST00000678314.1:c.-60-4852C>T | ENSP00000504438.1:n.-60-4852C>T | |
| ENST00000678864.1:n.96-4852C>T | ||
| ENST00000679154.1:c.32+7109C>T | ||
| ENST00000679327.1:n.1212C>T | ||
| ENST00000299697.11:c.231+10C>T | ENSP00000299697.8:n.231+10C>T | |
| ENST00000417693.7:c.357+10C>T | ENSP00000407469.4:n.357+10C>T | |
| ENST00000451102.6:c.357+10C>T | ENSP00000414334.3:n.357+10C>T | |
| ENST00000525974.5:c.-61+10C>T | ENSP00000434594.1:n.-61+10C>T | |
| ENST00000527284.5:c.138+10C>T | ENSP00000435312.1:n.138+10C>T | |
| ENST00000527800.5:c.-61+10C>T | ENSP00000433770.1:n.-61+10C>T | |
| ENST00000544898.5:c.231+10C>T | ENSP00000440898.2:n.231+10C>T | |
| ENST00000545043.6:c.157-4852C>T | ENSP00000438143.2:n.157-4852C>T | |
| ENST00000562484.2:c.-61+10C>T | ENSP00000463326.1:n.-61+10C>T | |
| ENST00000563369.6:c.-61+10C>T | ENSP00000463560.1:n.-61+10C>T | |
| ENST00000563478.5:c.-61+10C>T | ENSP00000462341.1:n.-61+10C>T | |
| ENST00000564917.5:c.231+10C>T | ENSP00000455187.1:n.231+10C>T | |
| ENST00000567357.5:c.*89+10C>T | ENSP00000457959.1:n.*89+10C>T | |
| ENST00000569718.5:c.125+10C>T | ||
| ENST00000620035.4:c.231+10C>T | ENSP00000483833.1:n.231+10C>T | |
| NM_001172643.1:c.138+10C>T | NP_001166114.1:n.138+10C>T | |
| NM_001172644.1:c.157-4852C>T | NP_001166115.1:n.157-4852C>T | |
| NM_001172645.1:c.231+10C>T | NP_001166116.1:n.231+10C>T | |
| NM_001271934.1:c.84+10C>T | NP_001258863.1:n.84+10C>T | |
| NM_001271935.1:c.138+10C>T | NP_001258864.1:n.138+10C>T | |
| NM_001272050.1:c.-61+10C>T | NP_001258979.1:n.-61+10C>T | |
| NM_004614.4:c.231+10C>T | NP_004605.4:n.231+10C>T | |
| NR_073520.1:n.1510+10C>T | ||
| NM_001172644.2:c.157-4852C>T | NP_001166115.1:n.157-4852C>T | |
| NM_001271934.2:c.84+10C>T | NP_001258863.1:n.84+10C>T | |
| NM_001272050.2:c.-61+10C>T | NP_001258979.1:n.-61+10C>T | |
| NM_004614.5:c.231+10C>T MANE Select | NP_004605.4:n.231+10C>T | |
| NR_073520.2:n.1220+10C>T | ||
| NM_001172645.2:c.231+10C>T | NP_001166116.1:n.231+10C>T |