gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17692044 (AFR)
Genomes Max Group AF
0.17692044 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62540131A>G , CM000672.2:g.62540131A>G | GRCh38 |
| NC_000010.10:g.64299890A>G , CM000672.1:g.64299890A>G | GRCh37 |
| NC_000010.9:g.63969896A>G | NCBI36 |
| NG_021209.1:g.170975A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647733.1:c.981+80334A>G | ENSP00000502188.1:n.981+80334A>G | |
| ENST00000395251.5:c.-185+19534A>G | ENSP00000378672.1:n.-185+19534A>G | |
| ENST00000410046.7:c.981+80334A>G | ENSP00000387091.3:n.981+80334A>G | |
| NM_199451.2:c.981+80334A>G | NP_955523.1:n.981+80334A>G | |
| NM_199452.3:c.-185+19534A>G | NP_955524.3:n.-185+19534A>G | |
| XM_017015937.2:c.982-4078A>G | XP_016871426.1:n.982-4078A>G | |
| NM_199451.3:c.981+80334A>G | NP_955523.1:n.981+80334A>G |