gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00461605 (SAS)
Genomes Max Group AF
0.00240899 (SAS)
Exomes Max Group AF
0.00467367 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61393963T>C , CM000673.2:g.61393963T>C | GRCh38 |
| NC_000011.9:g.61161435T>C , CM000673.1:g.61161435T>C | GRCh37 |
| NC_000011.8:g.60918011T>C | NCBI36 |
| NG_032976.1:g.6604T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.216T>C | ENSP00000334844.5:p.Ile72= | |
| ENST00000544795.6:n.493T>C | ||
| ENST00000684926.1:n.232T>C | ||
| ENST00000688959.1:c.-44T>C | ENSP00000509213.1:n.-44T>C | |
| ENST00000690736.1:c.216T>C | ENSP00000508542.1:p.Ile72= | |
| ENST00000515837.7:c.216T>C MANE Select | ENSP00000440638.1:p.Ile72= | |
| ENST00000334888.9:c.216T>C | ENSP00000334844.5:p.Ile72= | |
| ENST00000398979.7:c.33T>C | ENSP00000381950.3:p.Ile11= | |
| ENST00000515837.6:c.216T>C | ENSP00000440638.1:p.Ile72= | |
| ENST00000541473.1:n.230T>C | ||
| ENST00000544795.5:n.232T>C | ||
| NM_001173990.2:c.216T>C | NP_001167461.1:p.Ile72= | |
| NM_001173991.2:c.216T>C | NP_001167462.1:p.Ile72= | |
| NM_016499.5:c.33T>C | NP_057583.2:p.Ile11= | |
| XM_005274039.3:c.33T>C | XP_005274096.1:p.Ile11= | |
| NM_001330285.1:c.33T>C | NP_001317214.1:p.Ile11= | |
| XM_005274039.4:c.33T>C | XP_005274096.1:p.Ile11= | |
| NM_001173990.3:c.216T>C MANE Select | NP_001167461.1:p.Ile72= | |
| NM_001173991.3:c.216T>C | NP_001167462.1:p.Ile72= | |
| NM_001330285.2:c.33T>C | NP_001317214.1:p.Ile11= | |
| NM_016499.6:c.33T>C | NP_057583.2:p.Ile11= |