gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79089625 (AFR)
Genomes Max Group AF
0.79089625 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.119001037C>T , CM000670.2:g.119001037C>T | GRCh38 |
| NC_000008.10:g.120013276C>T , CM000670.1:g.120013276C>T | GRCh37 |
| NC_000008.9:g.120082457C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521788.1:n.122+5464C>T | ||
| XM_005250756.2:c.-60+48659C>T | XP_005250813.1:n.-60+48659C>T | |
| NM_001324095.1:c.-323-36399C>T | NP_001311024.1:n.-323-36399C>T | |
| XM_005250756.3:c.-60+48659C>T | XP_005250813.1:n.-60+48659C>T | |
| NM_001324095.2:c.-323-36399C>T | NP_001311024.1:n.-323-36399C>T |