gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17431163 (SAS)
Genomes Max Group AF
0.17431163 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.28678635C>T , CM000665.2:g.28678635C>T | GRCh38 |
| NC_000003.11:g.28720126C>T , CM000665.1:g.28720126C>T | GRCh37 |
| NC_000003.10:g.28695130C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432518.6:n.810-78123C>T | ||
| ENST00000443912.5:n.87-57374C>T | ||
| ENST00000445077.1:n.70-78474C>T | ||
| ENST00000635992.1:c.*339+102139C>T | ENSP00000489994.1:n.*339+102139C>T | |
| ENST00000636680.2:c.213+102139C>T (RBMS3) | ENSP00000490271.2:n.213+102139C>T | |
| NR_038840.1:n.323-78123C>T (LINC00693) |