gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82453026 (EAS)
Genomes Max Group AF
0.82453026 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.33410403T>C , CM000679.2:g.33410403T>C | GRCh38 |
| NC_000017.10:g.31737421T>C , CM000679.1:g.31737421T>C | GRCh37 |
| NC_000017.9:g.28761534T>C | NCBI36 |
| NG_029763.1:g.751405A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359872.6:c.556-298336A>G | ENSP00000352934.6:n.556-298336A>G | |
| NM_001094.4:c.556-298336A>G | NP_001085.2:n.556-298336A>G | |
| NM_001094.5:c.556-298336A>G | NP_001085.2:n.556-298336A>G |