gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41461869 (SAS)
Genomes Max Group AF
0.41461869 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14359452G>A , CM000673.2:g.14359452G>A | GRCh38 |
| NC_000011.9:g.14380998G>A , CM000673.1:g.14380998G>A | GRCh37 |
| NC_000011.8:g.14337574G>A | NCBI36 |
| NG_017058.1:g.10055C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529237.5:c.-124+4939C>T | ENSP00000433230.1:n.-124+4939C>T | |
| ENST00000537760.5:c.3+4939C>T | ENSP00000437547.1:n.3+4939C>T | |
| NM_001177314.1:c.3+4939C>T | NP_001170785.1:n.3+4939C>T | |
| NM_001177314.2:c.3+4939C>T | NP_001170785.1:n.3+4939C>T |