gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001171 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.22431320A>T , CM000681.2:g.22431320A>T | GRCh38 |
| NC_000019.9:g.22614122A>T , CM000681.1:g.22614122A>T | GRCh37 |
| NC_000019.8:g.22405962A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593802.1:c.316-27808T>A | ENSP00000472301.1:n.316-27808T>A |