dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89015319 (AFR)
Genomes Max Group AF
0.89015319 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22115590A>T , CM000671.2:g.22115590A>T | GRCh38 |
| NC_000009.11:g.22115589A>T , CM000671.1:g.22115589A>T | GRCh37 |
| NC_000009.10:g.22105589A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+1791A>T | ||
| NR_047532.1:n.1697+1791A>T | ||
| NR_047534.1:n.961+1791A>T | ||
| NR_047535.1:n.857-3054A>T | ||
| NR_047536.1:n.721-3054A>T | ||
| NR_047537.1:n.781-4610A>T | ||
| NR_047538.1:n.645-4610A>T | ||
| NR_047543.1:n.990+1791A>T | ||
| NR_120536.1:n.645-4914A>T |