gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00317819 (EAS)
Genomes Max Group AF
0.00256163 (EAS)
Exomes Max Group AF
0.00312233 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1840848C>T , CM000673.2:g.1840848C>T | GRCh38 |
| NC_000011.9:g.1862078C>T , CM000673.1:g.1862078C>T | GRCh37 |
| NC_000011.8:g.1818654C>T | NCBI36 |
| NG_011621.1:g.6846C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381911.6:c.216C>T MANE Select | ENSP00000371336.1:p.Ile72= | |
| ENST00000252898.11:c.216C>T | ENSP00000252898.7:p.Ile72= | |
| ENST00000381905.3:c.216C>T | ENSP00000371330.3:p.Ile72= | |
| ENST00000381906.5:c.216C>T | ENSP00000371331.1:p.Ile72= | |
| ENST00000381911.5:c.216C>T | ENSP00000371336.1:p.Ile72= | |
| ENST00000617947.4:c.216C>T | ENSP00000481242.1:p.Ile72= | |
| NM_001145829.1:c.216C>T | NP_001139301.1:p.Ile72= | |
| NM_001145841.1:c.216C>T | NP_001139313.1:p.Ile72= | |
| NM_003282.3:c.216C>T | NP_003273.1:p.Ile72= | |
| NM_003282.4:c.216C>T MANE Select | NP_003273.1:p.Ile72= | |
| NM_001145829.2:c.216C>T | NP_001139301.1:p.Ile72= | |
| NM_001145841.2:c.216C>T | NP_001139313.1:p.Ile72= |