gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12691317 (AFR)
Genomes Max Group AF
0.12691317 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74097998G>T , CM000670.2:g.74097998G>T | GRCh38 |
| NC_000008.10:g.75010233G>T , CM000670.1:g.75010233G>T | GRCh37 |
| NC_000008.9:g.75172787G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017013299.1:c.385-1421G>T | XP_016868788.1:n.385-1421G>T | |
| XM_017013300.1:c.295-1421G>T | XP_016868789.1:n.295-1421G>T |