gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Exomes Max Group AF
0.00001584 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53134058T>A , CM000668.2:g.53134058T>A | GRCh38 |
| NC_000006.11:g.52998856T>A , CM000668.1:g.52998856T>A | GRCh37 |
| NC_000006.10:g.53106815T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259803.8:c.328+14A>T MANE Select | ENSP00000259803.7:n.328+14A>T | |
| ENST00000259803.7:c.328+14A>T | ENSP00000259803.7:n.328+14A>T | |
| NM_003643.3:c.328+14A>T | NP_003634.2:n.328+14A>T | |
| XM_017011390.2:c.514+14A>T | XP_016866879.1:n.514+14A>T | |
| NM_003643.4:c.328+14A>T MANE Select | NP_003634.2:n.328+14A>T |