gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69047187 (EAS)
Genomes Max Group AF
0.69047187 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80347222T>C , CM000677.2:g.80347222T>C | GRCh38 |
| NC_000015.9:g.80639564T>C , CM000677.1:g.80639564T>C | GRCh37 |
| NC_000015.8:g.78426619T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932523.1:n.176+477A>G | ||
| XR_932524.1:n.146+477A>G | ||
| XR_932523.2:n.176+477A>G |