gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67582442 (AFR)
Genomes Max Group AF
0.67582442 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95705514A>G , CM000676.2:g.95705514A>G | GRCh38 |
| NC_000014.8:g.96171851A>G , CM000676.1:g.96171851A>G | GRCh37 |
| NC_000014.7:g.95241604A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017021676.2:c.*1+6240T>C | XP_016877165.1:n.*1+6240T>C | |
| XM_017021677.2:c.*6+6235T>C | XP_016877166.1:n.*6+6235T>C |