gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27543283T>A , CM000671.2:g.27543283T>A | GRCh38 |
| NC_000009.11:g.27543281T>A , CM000671.1:g.27543281T>A | GRCh37 |
| NC_000009.10:g.27533281T>A | NCBI36 |
| NG_031977.2:g.35584A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673600.1:c.*267+4832A>T | ENSP00000500650.1:n.*267+4832A>T | |
| XR_001746639.2:n.862A>T |