gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91582725 (EAS)
Genomes Max Group AF
0.91582725 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53338107G>A , CM000674.2:g.53338107G>A | GRCh38 |
| NC_000012.11:g.53731891G>A , CM000674.1:g.53731891G>A | GRCh37 |
| NC_000012.10:g.52018158G>A | NCBI36 |
| NG_023391.1:g.3114C>T | |
| NG_023391.2:g.11687C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547755.1:c.-34+7007C>T | ENSP00000449355.1:n.-34+7007C>T | |
| NM_001300837.1:c.-271-1724C>T | NP_001287766.1:n.-271-1724C>T | |
| XM_011537900.1:c.-274-1721C>T | XP_011536202.1:n.-274-1721C>T | |
| XM_011537901.1:c.-34+6344C>T | XP_011536203.1:n.-34+6344C>T | |
| XM_011537900.2:c.-274-1721C>T | XP_011536202.1:n.-274-1721C>T | |
| NM_001300837.2:c.-271-1724C>T | NP_001287766.1:n.-271-1724C>T |