gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001919 (AFR)
Genomes Max Group AF
0.00001919 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.11358685C>G , CM000678.2:g.11358685C>G | GRCh38 |
| NC_000016.9:g.11452542C>G , CM000678.1:g.11452542C>G | GRCh37 |
| NC_000016.8:g.11360043C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648619.1:c.295+12919C>G | ENSP00000497643.1:n.295+12919C>G | |
| ENST00000649869.1:n.153-21137C>G | ||
| XR_933070.1:n.734-21137C>G | ||
| XR_933072.1:n.688+3005C>G | ||
| XR_933073.1:n.59-21137C>G | ||
| XR_933070.3:n.877-21137C>G | ||
| XR_933072.2:n.1287+3005C>G | ||
| XR_933073.2:n.843-21137C>G |