gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03015427 (NFE)
Genomes Max Group AF
0.03015427 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.11030572T>C , CM000685.2:g.11030572T>C | GRCh38 |
| NC_000023.10:g.11048692T>C , CM000685.1:g.11048692T>C | GRCh37 |
| NC_000023.9:g.10958613T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011545525.1:c.-57+25364A>G | XP_011543827.1:n.-57+25364A>G | |
| XM_011545526.1:c.-57+25364A>G | XP_011543828.1:n.-57+25364A>G |