gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84371365 (AFR)
Genomes Max Group AF
0.84371365 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.64900435A>G , CM000665.2:g.64900435A>G | GRCh38 |
| NC_000003.11:g.64886110A>G , CM000665.1:g.64886110A>G | GRCh37 |
| NC_000003.10:g.64861150A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038264.1:n.897+33178A>G | ||
| XR_940917.1:n.2901-5788T>C | ||
| XR_940918.1:n.2901-5788T>C | ||
| XR_940919.1:n.2767-5788T>C | ||
| XR_940920.1:n.1552-5788T>C | ||
| XR_940921.1:n.2761-5788T>C | ||
| XR_940922.1:n.1149-5788T>C | ||
| XR_940923.1:n.1149-23962T>C | ||
| XR_001740437.1:n.269-5788T>C |