gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02516033 (AFR)
Genomes Max Group AF
0.02516877 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128241254A>T , CM000669.2:g.128241254A>T | GRCh38 |
| NC_000007.13:g.127881307A>T , CM000669.1:g.127881307A>T | GRCh37 |
| NC_000007.12:g.127668543A>T | NCBI36 |
| NG_007450.1:g.4977A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005250340.3:c.-81A>T | XP_005250397.1:n.-81A>T | |
| XM_005250340.5:c.-81A>T | XP_005250397.1:n.-81A>T |