gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22515946 (NFE)
Genomes Max Group AF
0.22515946 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129479506T>G , CM000670.2:g.129479506T>G | GRCh38 |
| NC_000008.10:g.130491752T>G , CM000670.1:g.130491752T>G | GRCh37 |
| NC_000008.9:g.130560934T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130917.1:n.360+1137A>C | ||
| NR_130918.1:n.137+95376A>C | ||
| NR_130919.1:n.138-79822A>C | ||
| NR_130920.1:n.138-79822A>C |