gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66471475 (EAS)
Genomes Max Group AF
0.66471475 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62427805C>T , CM000672.2:g.62427805C>T | GRCh38 |
| NC_000010.10:g.64187564C>T , CM000672.1:g.64187564C>T | GRCh37 |
| NC_000010.9:g.63857570C>T | NCBI36 |
| NG_021209.1:g.58649C>T | |
| NG_021209.2:g.58614C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647733.1:c.925-31936C>T | ENSP00000502188.1:n.925-31936C>T | |
| ENST00000395255.7:c.925-31936C>T | ENSP00000378675.3:n.925-31936C>T | |
| ENST00000410046.7:c.925-31936C>T | ENSP00000387091.3:n.925-31936C>T | |
| NM_199450.2:c.925-31936C>T | NP_955522.1:n.925-31936C>T | |
| NM_199451.2:c.925-31936C>T | NP_955523.1:n.925-31936C>T | |
| XM_017015937.2:c.925-31936C>T | XP_016871426.1:n.925-31936C>T | |
| NM_199451.3:c.925-31936C>T | NP_955523.1:n.925-31936C>T | |
| NM_199450.3:c.925-31936C>T | NP_955522.1:n.925-31936C>T |