gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91211705 (EAS)
Genomes Max Group AF
0.91208769 (EAS)
Exomes Max Group AF
0.54254003 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109275684G>T , CM000663.2:g.109275684G>T | GRCh38 |
| NC_000001.10:g.109818306G>T , CM000663.1:g.109818306G>T | GRCh37 |
| NC_000001.9:g.109619829G>T | NCBI36 |
| NG_052669.1:g.30980G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.*1635G>T MANE Select | ENSP00000271332.3:n.*1635G>T | |
| ENST00000271332.3:c.*1635G>T | ENSP00000271332.3:n.*1635G>T | |
| NM_001408.2:c.*1635G>T | NP_001399.1:n.*1635G>T | |
| XM_005270580.3:c.*1502G>T | XP_005270637.1:n.*1502G>T | |
| NM_001408.3:c.*1635G>T MANE Select | NP_001399.1:n.*1635G>T |