gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82200583 (AMR)
Genomes Max Group AF
0.82200583 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.82084877T>C , CM000668.2:g.82084877T>C | GRCh38 |
| NC_000006.11:g.82794594T>C , CM000668.1:g.82794594T>C | GRCh37 |
| NC_000006.10:g.82851313T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942730.1:n.135+878A>G | ||
| XR_942732.1:n.135+878A>G | ||
| XR_942733.1:n.135+878A>G | ||
| NR_149135.1:n.207-12632A>G | ||
| XR_001744231.1:n.1197+15773T>C |