gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65171735 (AFR)
Genomes Max Group AF
0.65171735 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49358478A>G , CM000682.2:g.49358478A>G | GRCh38 |
| NC_000020.10:g.47975015A>G , CM000682.1:g.47975015A>G | GRCh37 |
| NC_000020.9:g.47408422A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635878.1:c.97-59095T>C | ENSP00000489908.1:n.97-59095T>C | |
| ENST00000636838.1:n.610+13863T>C | ||
| ENST00000637091.1:n.223-12024A>G | ||
| ENST00000637131.1:c.763+13863T>C | ||
| ENST00000637341.1:n.206+26454A>G | ||
| ENST00000637575.1:n.430-12024A>G | ||
| XR_001754659.1:n.156+26454A>G |