gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18247642 (AMR)
Genomes Max Group AF
0.18247642 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70836812C>T , CM000664.2:g.70836812C>T | GRCh38 |
| NC_000002.11:g.71063942C>T , CM000664.1:g.71063942C>T | GRCh37 |
| NC_000002.10:g.70917450C>T | NCBI36 |
| NG_033914.1:g.4012G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011532875.2:c.-235-211G>A | XP_011531177.1:n.-235-211G>A | |
| XM_011532876.2:c.-235-211G>A | XP_011531178.1:n.-235-211G>A |