gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88303514 (EAS)
Genomes Max Group AF
0.88303514 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27543283T>C , CM000671.2:g.27543283T>C | GRCh38 |
| NC_000009.11:g.27543281T>C , CM000671.1:g.27543281T>C | GRCh37 |
| NC_000009.10:g.27533281T>C | NCBI36 |
| NG_031977.2:g.35584A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673600.1:c.*267+4832A>G | ENSP00000500650.1:n.*267+4832A>G | |
| XR_001746639.2:n.862A>G |