gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85106637 (SAS)
Genomes Max Group AF
0.85106637 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99609722T>G , CM000676.2:g.99609722T>G | GRCh38 |
| NC_000014.8:g.100076059T>G , CM000676.1:g.100076059T>G | GRCh37 |
| NC_000014.7:g.99145812T>G | NCBI36 |
| NG_051108.1:g.10247T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006720277.2:c.-199+5107T>G | XP_006720340.1:n.-199+5107T>G | |
| XM_011537236.1:c.-287+5107T>G | XP_011535538.1:n.-287+5107T>G | |
| NM_001329411.1:c.-287+5107T>G | NP_001316340.1:n.-287+5107T>G | |
| XM_006720277.3:c.-199+5107T>G | XP_006720340.1:n.-199+5107T>G | |
| XM_011537236.2:c.-287+5107T>G | XP_011535538.1:n.-287+5107T>G | |
| NM_001329411.2:c.-287+5107T>G | NP_001316340.1:n.-287+5107T>G |