gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32620824 (SAS)
Genomes Max Group AF
0.32620824 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88263276T>C , CM000672.2:g.88263276T>C | GRCh38 |
| NC_000010.10:g.90023033T>C , CM000672.1:g.90023033T>C | GRCh37 |
| NC_000010.9:g.90013013T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011539924.1:c.*28+11657A>G | XP_011538226.1:n.*28+11657A>G | |
| XM_011539925.1:c.*29-1233A>G | XP_011538227.1:n.*29-1233A>G | |
| XR_946176.1:n.315-106803T>C | ||
| XM_011539924.3:c.*28+11657A>G | XP_011538226.1:n.*28+11657A>G | |
| XM_017016382.2:c.*28+11657A>G | XP_016871871.1:n.*28+11657A>G | |
| XR_001747122.2:n.2266+11657A>G | ||
| XR_001747537.2:n.657-106803T>C |