gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50967888 (SAS)
Genomes Max Group AF
0.50967888 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216108009G>T , CM000664.2:g.216108009G>T | GRCh38 |
| NC_000002.11:g.216972732G>T , CM000664.1:g.216972732G>T | GRCh37 |
| NC_000002.10:g.216680977G>T | NCBI36 |
| NG_029780.1:g.3713G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392133.7:c.-347+311G>T | ENSP00000375978.3:n.-347+311G>T |