gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53826523 (NFE)
Genomes Max Group AF
0.53826523 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45733894G>A , CM000679.2:g.45733894G>A | GRCh38 |
| NC_000017.10:g.43811260G>A , CM000679.1:g.43811260G>A | GRCh37 |
| NC_000017.9:g.41167031G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587305.1:n.447+60992G>A | ||
| ENST00000634540.1:c.-492-73116G>A | ENSP00000488912.1:n.-492-73116G>A | |
| NM_001256299.2:c.-492-73116G>A | NP_001243228.1:n.-492-73116G>A | |
| NM_001303016.1:c.-185+60992G>A | NP_001289945.1:n.-185+60992G>A | |
| XR_001752915.1:n.699+390C>T | ||
| NM_001256299.3:c.-492-73116G>A | NP_001243228.1:n.-492-73116G>A |