gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11349406 (SAS)
Genomes Max Group AF
0.1135413 (SAS)
Exomes Max Group AF
0.08462329 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31057031A>G , CM000668.2:g.31057031A>G | GRCh38 |
| NC_000006.11:g.31024808A>G , CM000668.1:g.31024808A>G | GRCh37 |
| NC_000006.10:g.31132787A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646461.3:c.876+121A>G | ENSP00000507162.2:n.876+121A>G | |
| ENST00000426185.1:n.1511+121A>G | ||
| ENST00000565192.1:n.1192+121A>G | ||
| ENST00000566475.1:n.300-2377A>G | ||
| NR_003948.2:n.1700+121A>G | ||
| NR_145427.1:n.1192+121A>G | ||
| NR_003948.3:n.1701+121A>G | ||
| NR_145427.2:n.1193+121A>G |