gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93056712 (AFR)
Genomes Max Group AF
0.93056712 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21562901G>T , CM000684.2:g.21562901G>T | GRCh38 |
| NC_000022.10:g.21917190G>T , CM000684.1:g.21917190G>T | GRCh37 |
| NC_000022.9:g.20247190G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458578.6:c.201+13251G>T | ENSP00000400906.2:n.201+13251G>T | |
| NM_001256355.1:c.201+13251G>T | NP_001243284.1:n.201+13251G>T |