gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31433384 (MID)
Genomes Max Group AF
0.28337397 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43844025C>T , CM000668.2:g.43844025C>T | GRCh38 |
| NC_000006.11:g.43811762C>T , CM000668.1:g.43811762C>T | GRCh37 |
| NC_000006.10:g.43919740C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001744131.1:n.2589+1392C>T | ||
| XR_001744132.1:n.2590-1251C>T | ||
| NM_001318876.2:c.945+314754C>T | NP_001305805.1:n.945+314754C>T |