gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000366 (NFE)
Exomes Max Group AF
0.00000388 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8648074T>C , CM000674.2:g.8648074T>C | GRCh38 |
| NC_000012.11:g.8800670T>C , CM000674.1:g.8800670T>C | GRCh37 |
| NC_000012.10:g.8691937T>C | NCBI36 |
| NG_041814.1:g.19815A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359478.7:c.*17A>G MANE Select | ENSP00000352455.2:n.*17A>G | |
| ENST00000359478.6:c.*17A>G | ENSP00000352455.2:n.*17A>G | |
| ENST00000396549.6:c.*17A>G | ENSP00000379798.2:n.*17A>G | |
| ENST00000433590.6:c.*17A>G | ENSP00000411997.2:n.*17A>G | |
| ENST00000535336.5:c.*17A>G | ENSP00000438525.1:n.*17A>G | |
| ENST00000535411.5:c.508A>G | ||
| ENST00000543369.5:c.*17A>G | ENSP00000441492.1:n.*17A>G | |
| ENST00000543467.5:c.257A>G | ENSP00000444531.1:n.257A>G | |
| ENST00000544211.5:c.*191A>G | ENSP00000443839.1:n.*191A>G | |
| NM_001297709.1:c.*17A>G | NP_001284638.1:n.*17A>G | |
| NM_001297710.1:c.*17A>G | NP_001284639.1:n.*17A>G | |
| NM_001297711.1:c.*17A>G | NP_001284640.1:n.*17A>G | |
| NM_001297712.1:c.*17A>G | NP_001284641.1:n.*17A>G | |
| NM_003480.3:c.*17A>G | NP_003471.1:n.*17A>G | |
| NR_123733.1:n.872A>G | ||
| NR_123734.1:n.842A>G | ||
| NM_003480.4:c.*17A>G MANE Select | NP_003471.1:n.*17A>G | |
| NM_001297709.2:c.*17A>G | NP_001284638.1:n.*17A>G | |
| NM_001297710.2:c.*17A>G | NP_001284639.1:n.*17A>G | |
| NM_001297711.2:c.*17A>G | NP_001284640.1:n.*17A>G | |
| NM_001297712.2:c.*17A>G | NP_001284641.1:n.*17A>G | |
| NR_123733.2:n.810A>G | ||
| NR_123734.2:n.780A>G |