gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14611352 (EAS)
Genomes Max Group AF
0.14611352 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23170240C>T , CM000675.2:g.23170240C>T | GRCh38 |
| NC_000013.10:g.23744379C>T , CM000675.1:g.23744379C>T | GRCh37 |
| NC_000013.9:g.22642379C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006719861.2:c.54+9594C>T | XP_006719924.1:n.54+9594C>T | |
| XM_006719861.3:c.54+9594C>T | XP_006719924.1:n.54+9594C>T | |
| NM_001378244.1:c.54+9594C>T | NP_001365173.1:n.54+9594C>T |