gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08656969 (EAS)
Genomes Max Group AF
0.05683856 (EAS)
Exomes Max Group AF
0.0895586 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12842121C>T , CM000686.2:g.12842121C>T | GRCh38 |
| NC_000024.9:g.14954047C>T , CM000686.1:g.14954047C>T | GRCh37 |
| NC_000024.8:g.13463441C>T | NCBI36 |
| NG_008311.1:g.145888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.6213-119C>T | ENSP00000498372.1:n.6213-119C>T | |
| ENST00000338981.7:c.6213-119C>T MANE Select | ENSP00000342812.3:n.6213-119C>T | |
| ENST00000426564.6:n.6225-104C>T | ||
| NM_004654.3:c.6213-119C>T | NP_004645.2:n.6213-119C>T | |
| XM_011531469.1:c.6213-119C>T | XP_011529771.1:n.6213-119C>T | |
| XM_011531470.1:c.5979-119C>T | XP_011529772.1:n.5979-119C>T | |
| XM_017030078.2:c.6228-119C>T | XP_016885567.1:n.6228-119C>T | |
| NM_004654.4:c.6213-119C>T MANE Select | NP_004645.2:n.6213-119C>T |