gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97728581 (EAS)
Genomes Max Group AF
0.97728581 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.95231973A>C , CM000663.2:g.95231973A>C | GRCh38 |
| NC_000001.10:g.95697529A>C , CM000663.1:g.95697529A>C | GRCh37 |
| NC_000001.9:g.95470117A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000604203.1:c.210+979A>C (TLCD4-RWDD3) | ||
| ENST00000604534.5:c.566+979A>C (TLCD4-RWDD3) | ENSP00000475025.1:n.566+979A>C | |
| NM_001199691.1:c.566+979A>C (TLCD4-RWDD3) | NP_001186620.1:n.566+979A>C | |
| NR_125948.1:n.283+1727T>G (RWDD3-DT) | ||
| NR_125949.1:n.283+1727T>G (RWDD3-DT) |