gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8897986 (NFE)
Genomes Max Group AF
0.8897986 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61944659T>C , CM000673.2:g.61944659T>C | GRCh38 |
| NC_000011.9:g.61712131T>C , CM000673.1:g.61712131T>C | GRCh37 |
| NC_000011.8:g.61468707T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011545197.1:c.29+1114A>G | XP_011543499.1:n.29+1114A>G | |
| XM_011545197.2:c.29+1114A>G | XP_011543499.1:n.29+1114A>G |