gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002538 (NFE)
Exomes Max Group AF
0.00002703 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66549959G>A , CM000678.2:g.66549959G>A | GRCh38 |
| NC_000016.9:g.66583862G>A , CM000678.1:g.66583862G>A | GRCh37 |
| NC_000016.8:g.65141363G>A | NCBI36 |
| NG_016862.1:g.5454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.31+294C>T | ENSP00000299697.9:n.31+294C>T | |
| ENST00000417693.8:c.103C>T | ENSP00000407469.5:p.Gln35Ter | |
| ENST00000451102.7:c.31+294C>T | ENSP00000414334.4:n.31+294C>T | |
| ENST00000527284.6:c.47C>T | ||
| ENST00000544898.6:c.103C>T MANE Select | ENSP00000440898.2:p.Gln35Ter | |
| ENST00000567357.6:c.103C>T | ENSP00000457959.2:p.Gln35Ter | |
| ENST00000569718.6:c.31+294C>T | ENSP00000464313.2:n.31+294C>T | |
| ENST00000620035.5:c.103C>T | ENSP00000483833.2:p.Gln35Ter | |
| ENST00000677420.1:c.-1063C>T | ENSP00000504648.1:n.-1063C>T | |
| ENST00000678015.1:c.-167-950C>T | ENSP00000502959.1:n.-167-950C>T | |
| ENST00000678297.1:c.-92-950C>T | ENSP00000503472.1:n.-92-950C>T | |
| ENST00000678314.1:c.-61+1581C>T | ENSP00000504438.1:n.-61+1581C>T | |
| ENST00000679327.1:n.146C>T | ||
| ENST00000299697.11:c.103C>T | ENSP00000299697.8:p.Gln35Ter | |
| ENST00000417693.7:c.229C>T | ENSP00000407469.4:p.Gln77Ter | |
| ENST00000451102.6:c.229C>T | ENSP00000414334.3:p.Gln77Ter | |
| ENST00000527284.5:c.31+294C>T | ENSP00000435312.1:n.31+294C>T | |
| ENST00000544898.5:c.103C>T | ENSP00000440898.2:p.Gln35Ter | |
| ENST00000545043.6:c.103C>T | ENSP00000438143.2:p.Gln35Ter | |
| ENST00000562484.2:c.-167-950C>T | ENSP00000463326.1:n.-167-950C>T | |
| ENST00000563478.5:c.-167-950C>T | ENSP00000462341.1:n.-167-950C>T | |
| ENST00000564917.5:c.103C>T | ENSP00000455187.1:p.Gln35Ter | |
| ENST00000567357.5:c.229C>T | ENSP00000457959.1:p.Gln77Ter | |
| ENST00000569718.5:c.18+294C>T | ||
| ENST00000620035.4:c.103C>T | ENSP00000483833.1:p.Gln35Ter | |
| NM_001172643.1:c.31+294C>T | NP_001166114.1:n.31+294C>T | |
| NM_001172644.1:c.103C>T | NP_001166115.1:p.Gln35Ter | |
| NM_001172645.1:c.103C>T | NP_001166116.1:p.Gln35Ter | |
| NM_001271934.1:c.-140C>T | NP_001258863.1:n.-140C>T | |
| NM_001271935.1:c.31+294C>T | NP_001258864.1:n.31+294C>T | |
| NM_004614.4:c.103C>T | NP_004605.4:p.Gln35Ter | |
| NR_073520.1:n.454C>T | ||
| NM_001172644.2:c.103C>T | NP_001166115.1:p.Gln35Ter | |
| NM_001271934.2:c.-140C>T | NP_001258863.1:n.-140C>T | |
| NM_001272050.2:c.-550C>T | NP_001258979.1:n.-550C>T | |
| NM_004614.5:c.103C>T MANE Select | NP_004605.4:p.Gln35Ter | |
| NR_073520.2:n.164C>T | ||
| NM_001172645.2:c.103C>T | NP_001166116.1:p.Gln35Ter |