gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002261 (AMR)
Genomes Max Group AF
0.00002261 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11256298C>G , CM000678.2:g.11256298C>G | GRCh38 |
| NC_000016.9:g.11350155C>G , CM000678.1:g.11350155C>G | GRCh37 |
| NC_000016.8:g.11257656C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649869.1:n.152+6520C>G | ||
| ENST00000572173.1:c.-516+6520C>G | ENSP00000461206.1:n.-516+6520C>G | |
| ENST00000573910.1:n.160+6520C>G | ||
| XR_933070.1:n.733+6520C>G | ||
| XR_933070.3:n.876+6520C>G |