gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5644559 (EAS)
Genomes Max Group AF
0.5644559 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.53645746G>A , CM000666.2:g.53645746G>A | GRCh38 |
| NC_000004.11:g.54511913G>A , CM000666.1:g.54511913G>A | GRCh37 |
| NC_000004.10:g.54206670G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504605.1:n.310+6422C>T | ||
| ENST00000507166.5:c.1017+219781G>A | ENSP00000423325.1:n.1017+219781G>A | |
| ENST00000507168.5:c.-215+6422C>T | ENSP00000425135.1:n.-215+6422C>T | |
| ENST00000510143.1:c.-87+6422C>T | ENSP00000421897.1:n.-87+6422C>T | |
| ENST00000513421.5:c.-416-28366C>T | ENSP00000426445.1:n.-416-28366C>T | |
| XM_005265785.3:c.-87+6422C>T | XP_005265842.1:n.-87+6422C>T | |
| XM_005265785.5:c.-87+6422C>T | XP_005265842.1:n.-87+6422C>T | |
| XM_017008776.1:c.-215+6422C>T | XP_016864265.1:n.-215+6422C>T |