gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3741936 (AFR)
Genomes Max Group AF
0.3741936 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.33960430G>A , CM000679.2:g.33960430G>A | GRCh38 |
| NC_000017.10:g.32287449G>A , CM000679.1:g.32287449G>A | GRCh37 |
| NC_000017.9:g.29311562G>A | NCBI36 |
| NG_029763.1:g.201377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359872.6:c.555+195548C>T | ENSP00000352934.6:n.555+195548C>T | |
| NM_001094.4:c.555+195548C>T | NP_001085.2:n.555+195548C>T | |
| XR_001752840.1:n.405-23608C>T | ||
| NM_001094.5:c.555+195548C>T | NP_001085.2:n.555+195548C>T |