gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90776078 (AFR)
Genomes Max Group AF
0.90776078 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62610240C>G , CM000672.2:g.62610240C>G | GRCh38 |
| NC_000010.10:g.64369999C>G , CM000672.1:g.64369999C>G | GRCh37 |
| NC_000010.9:g.64040005C>G | NCBI36 |
| NG_021209.1:g.241084C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647733.1:c.982-12863C>G | ENSP00000502188.1:n.982-12863C>G | |
| ENST00000395251.5:c.-184-33502C>G | ENSP00000378672.1:n.-184-33502C>G | |
| ENST00000410046.7:c.982-12863C>G | ENSP00000387091.3:n.982-12863C>G | |
| NM_199451.2:c.982-12863C>G | NP_955523.1:n.982-12863C>G | |
| NM_199452.3:c.-184-33502C>G | NP_955524.3:n.-184-33502C>G | |
| NM_199451.3:c.982-12863C>G | NP_955523.1:n.982-12863C>G |