gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001172 (NFE)
Genomes Max Group AF
0.00001172 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173340574A>T , CM000663.2:g.173340574A>T | GRCh38 |
| NC_000001.10:g.173309713A>T , CM000663.1:g.173309713A>T | GRCh37 |
| NC_000001.9:g.171576336A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_037845.1:n.656-100551T>A | ||
| XM_017002229.1:c.24+101345T>A | XP_016857718.1:n.24+101345T>A | |
| XM_017002230.1:c.18+61685T>A | XP_016857719.1:n.18+61685T>A |