gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88580477 (AFR)
Genomes Max Group AF
0.88580477 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22100177G>C , CM000671.2:g.22100177G>C | GRCh38 |
| NC_000009.11:g.22100176G>C , CM000671.1:g.22100176G>C | GRCh37 |
| NC_000009.10:g.22090176G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2698+2813G>C | ||
| NR_047532.1:n.1487+2813G>C | ||
| NR_047534.1:n.751+2813G>C | ||
| NR_047535.1:n.781-12143G>C | ||
| NR_047536.1:n.645-12143G>C | ||
| NR_047537.1:n.781-20023G>C | ||
| NR_047538.1:n.645-20023G>C | ||
| NR_047543.1:n.781-12143G>C | ||
| NR_120536.1:n.645-20327G>C |