gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01648832 (SAS)
Genomes Max Group AF
0.01292492 (SAS)
Exomes Max Group AF
0.01654635 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73064835G>C , CM000666.2:g.73064835G>C | GRCh38 |
| NC_000004.11:g.73930552G>C , CM000666.1:g.73930552G>C | GRCh37 |
| NC_000004.10:g.74149416G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507544.3:c.666C>G MANE Select | ENSP00000425261.3:p.Pro222= | |
| ENST00000295890.8:c.663C>G | ENSP00000295890.4:p.Pro221= | |
| ENST00000449739.6:c.*172C>G | ENSP00000394583.2:n.*172C>G | |
| ENST00000507544.2:c.666C>G | ENSP00000425261.2:p.Pro222= | |
| ENST00000510031.1:c.*283C>G | ENSP00000424978.1:n.*283C>G | |
| NM_001297732.1:c.666C>G | NP_001284661.1:p.Pro222= | |
| NM_001297733.1:c.210C>G | NP_001284662.1:p.Pro70= | |
| NM_001300729.1:c.672C>G | NP_001287658.1:p.Pro224= | |
| NM_173827.3:c.663C>G | NP_776188.1:p.Pro221= | |
| XM_005265680.3:c.666C>G | XP_005265737.1:p.Pro222= | |
| XM_011531878.1:c.213C>G | XP_011530180.1:p.Pro71= | |
| XM_005265680.5:c.666C>G | XP_005265737.1:p.Pro222= | |
| XM_011531878.3:c.213C>G | XP_011530180.1:p.Pro71= | |
| XM_017008045.2:c.663C>G | XP_016863534.1:p.Pro221= | |
| XR_001741209.2:n.759C>G | ||
| XR_002959725.1:n.1964C>G | ||
| NM_001297732.2:c.666C>G MANE Select | NP_001284661.1:p.Pro222= | |
| NM_001297733.2:c.210C>G | NP_001284662.1:p.Pro70= | |
| NM_173827.4:c.663C>G | NP_776188.1:p.Pro221= |