gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6760811 (EAS)
Genomes Max Group AF
0.6760811 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22084311C>T , CM000671.2:g.22084311C>T | GRCh38 |
| NC_000009.11:g.22084310C>T , CM000671.1:g.22084310C>T | GRCh37 |
| NC_000009.10:g.22074310C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2449-12061C>T | ||
| NR_047532.1:n.1076-7997C>T | ||
| NR_047534.1:n.645-12947C>T | ||
| NR_047535.1:n.780+27924C>T | ||
| NR_047536.1:n.645-28009C>T | ||
| NR_047537.1:n.780+27924C>T | ||
| NR_047538.1:n.644+35083C>T | ||
| NR_047543.1:n.780+27924C>T | ||
| NR_120536.1:n.644+35083C>T |