gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76689681 (EAS)
Genomes Max Group AF
0.76689681 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.28664273A>G , CM000665.2:g.28664273A>G | GRCh38 |
| NC_000003.11:g.28705764A>G , CM000665.1:g.28705764A>G | GRCh37 |
| NC_000003.10:g.28680768A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432518.6:n.809+87777A>G | ||
| ENST00000443912.5:n.87-71736A>G | ||
| ENST00000445077.1:n.69+87777A>G | ||
| ENST00000635992.1:c.*339+87777A>G | ENSP00000489994.1:n.*339+87777A>G | |
| ENST00000636680.2:c.213+87777A>G (RBMS3) | ENSP00000490271.2:n.213+87777A>G | |
| NR_038840.1:n.322+87777A>G (LINC00693) |