gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64732786 (EAS)
Genomes Max Group AF
0.64732786 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22088261C>T , CM000671.2:g.22088261C>T | GRCh38 |
| NC_000009.11:g.22088260C>T , CM000671.1:g.22088260C>T | GRCh37 |
| NC_000009.10:g.22078260C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2449-8111C>T | ||
| NR_047532.1:n.1076-4047C>T | ||
| NR_047534.1:n.645-8997C>T | ||
| NR_047535.1:n.781-24059C>T | ||
| NR_047536.1:n.645-24059C>T | ||
| NR_047537.1:n.780+31874C>T | ||
| NR_047538.1:n.645-31939C>T | ||
| NR_047543.1:n.781-24059C>T | ||
| NR_120536.1:n.645-32243C>T |