gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37775414 (EAS)
Genomes Max Group AF
0.37775414 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79976225A>G , CM000672.2:g.79976225A>G | GRCh38 |
| NC_000010.10:g.81735981A>G , CM000672.1:g.81735981A>G | GRCh37 |
| NC_000010.9:g.81725961A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444384.3:c.36+6350T>C | ENSP00000394325.1:n.36+6350T>C | |
| XM_011540087.1:c.-4+5993T>C | XP_011538389.1:n.-4+5993T>C |