gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22406568 (SAS)
Genomes Max Group AF
0.22406568 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54527508C>T , CM000670.2:g.54527508C>T | GRCh38 |
| NC_000008.10:g.55440068C>T , CM000670.1:g.55440068C>T | GRCh37 |
| NC_000008.9:g.55602621C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646684.1:n.128-5188C>T | ||
| XM_017013721.1:c.-1189-5188C>T | XP_016869210.1:n.-1189-5188C>T |