gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7880601 (SAS)
Genomes Max Group AF
0.7880601 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127462940G>T , CM000670.2:g.127462940G>T | GRCh38 |
| NC_000008.10:g.128475185G>T , CM000670.1:g.128475185G>T | GRCh37 |
| NC_000008.9:g.128544367G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024393.1:n.1041+16143C>A | ||
| NR_117100.1:n.1041+16143C>A |