gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01177991 (SAS)
Genomes Max Group AF
0.01177991 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147835718C>A , CM000667.2:g.147835718C>A | GRCh38 |
| NC_000005.9:g.147215281C>A , CM000667.1:g.147215281C>A | GRCh37 |
| NC_000005.8:g.147195474C>A | NCBI36 |
| NG_008356.2:g.8514G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_003122.4:c.-192+3416G>T | NP_003113.2:n.-192+3416G>T | |
| NM_001354966.1:c.-225+3416G>T | NP_001341895.1:n.-225+3416G>T | |
| NM_001354966.2:c.-225+3416G>T | NP_001341895.1:n.-225+3416G>T | |
| NM_003122.5:c.-192+3416G>T | NP_003113.2:n.-192+3416G>T |