gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17494436 (MID)
Genomes Max Group AF
0.17369139 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127448159A>G , CM000670.2:g.127448159A>G | GRCh38 |
| NC_000008.10:g.128460404A>G , CM000670.1:g.128460404A>G | GRCh37 |
| NC_000008.9:g.128529586A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024393.1:n.1042-4439T>C | ||
| NR_117100.1:n.1042-27196T>C |