gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95262519 (NFE)
Genomes Max Group AF
0.95262519 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61944003T>G , CM000673.2:g.61944003T>G | GRCh38 |
| NC_000011.9:g.61711475T>G , CM000673.1:g.61711475T>G | GRCh37 |
| NC_000011.8:g.61468051T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011545197.1:c.29+1770A>C | XP_011543499.1:n.29+1770A>C | |
| XM_011545197.2:c.29+1770A>C | XP_011543499.1:n.29+1770A>C |