gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8680897 (EAS)
Genomes Max Group AF
0.8680897 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97786731A>G , CM000671.2:g.97786731A>G | GRCh38 |
| NC_000009.11:g.100549013A>G , CM000671.1:g.100549013A>G | GRCh37 |
| NC_000009.10:g.99588834A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930161.1:n.363+23164T>C | ||
| XR_930162.1:n.66A>G | ||
| NR_147055.1:n.777+17520T>C |