gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022339 (AFR)
Genomes Max Group AF
0.00006272 (AFR)
Exomes Max Group AF
0.00037704 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33114359C>T , CM000665.2:g.33114359C>T | GRCh38 |
| NC_000003.11:g.33155851C>T , CM000665.1:g.33155851C>T | GRCh37 |
| NC_000003.10:g.33130855C>T | NCBI36 |
| NG_008122.1:g.5402C>T , LRG_4:g.5402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320954.11:c.282C>T MANE Select | ENSP00000323696.5:p.Pro94= | |
| ENST00000320954.10:c.282C>T | ENSP00000323696.5:p.Pro94= | |
| ENST00000449224.1:c.282C>T | ENSP00000409997.1:p.Pro94= | |
| NM_006371.4:c.282C>T , LRG_4t1:c.282C>T | NP_006362.1:p.Pro94= | |
| NM_006371.5:c.282C>T MANE Select | NP_006362.1:p.Pro94= | |
| NM_001393363.1:c.282C>T | NP_001380292.1:p.Pro94= | |
| NM_001393364.1:c.282C>T | NP_001380293.1:p.Pro94= | |
| NM_001393365.1:c.282C>T | NP_001380294.1:p.Pro94= |