gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33743132 (NFE)
Genomes Max Group AF
0.33743132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45749300C>T , CM000679.2:g.45749300C>T | GRCh38 |
| NC_000017.10:g.43826666C>T , CM000679.1:g.43826666C>T | GRCh37 |
| NC_000017.9:g.41182437C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587305.1:n.448-57710C>T | ||
| ENST00000634540.1:c.-492-57710C>T | ENSP00000488912.1:n.-492-57710C>T | |
| NM_001256299.2:c.-492-57710C>T | NP_001243228.1:n.-492-57710C>T | |
| NM_001303016.1:c.-184-57710C>T | NP_001289945.1:n.-184-57710C>T | |
| NM_001256299.3:c.-492-57710C>T | NP_001243228.1:n.-492-57710C>T |