gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80779735 (NFE)
Genomes Max Group AF
0.81085565 (NFE)
Exomes Max Group AF
0.80729935 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1312114T>C , CM000663.2:g.1312114T>C | GRCh38 |
| NC_000001.10:g.1247494T>C , CM000663.1:g.1247494T>C | GRCh37 |
| NC_000001.9:g.1237357T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435064.6:c.1641A>G MANE Select | ENSP00000413493.2:p.Pro547= | |
| ENST00000323275.10:n.2029A>G | ||
| ENST00000411962.5:c.1347A>G | ENSP00000400548.1:p.Pro449= | |
| ENST00000419704.5:c.1338A>G | ENSP00000404886.1:p.Pro446= | |
| ENST00000421495.6:c.867A>G | ENSP00000464436.1:p.Pro289= | |
| ENST00000435064.5:c.1641A>G | ENSP00000413493.1:p.Pro547= | |
| ENST00000450926.6:c.1575A>G | ENSP00000392848.2:p.Pro525= | |
| ENST00000458452.7:c.*1925A>G | ENSP00000433930.1:n.*1925A>G | |
| ENST00000462432.5:n.2444A>G | ||
| ENST00000470030.6:n.1933A>G | ||
| ENST00000478641.5:n.2664A>G | ||
| ENST00000485710.5:n.849A>G | ||
| ENST00000497304.6:n.509A>G | ||
| ENST00000527098.5:c.*1469A>G | ENSP00000431952.1:n.*1469A>G | |
| ENST00000532772.5:c.*1063A>G | ENSP00000431214.1:n.*1063A>G | |
| ENST00000540437.5:c.1659A>G | ENSP00000445001.1:p.Pro553= | |
| ENST00000545578.5:c.1554A>G | ENSP00000444672.1:p.Pro518= | |
| ENST00000618806.4:c.1008A>G | ENSP00000480957.1:p.Pro336= | |
| ENST00000620829.4:c.1347A>G | ENSP00000481821.1:p.Pro449= | |
| NM_001256456.1:c.1659A>G | NP_001243385.1:p.Pro553= | |
| NM_001256460.1:c.1554A>G | NP_001243389.1:p.Pro518= | |
| NM_001256462.1:c.1347A>G | NP_001243391.1:p.Pro449= | |
| NM_001256463.1:c.1338A>G | NP_001243392.1:p.Pro446= | |
| NM_017871.5:c.1641A>G | NP_060341.2:p.Pro547= | |
| XM_011541647.1:c.1821A>G | XP_011539949.1:p.Pro607= | |
| XM_011541648.1:c.1707A>G | XP_011539950.1:p.Pro569= | |
| XM_011541650.1:c.1269A>G | XP_011539952.1:p.Pro423= | |
| XR_426614.2:n.1150A>G | ||
| XM_011541650.2:c.1269A>G | XP_011539952.1:p.Pro423= | |
| XM_017001557.1:c.1269A>G | XP_016857046.1:p.Pro423= | |
| XM_017001558.1:c.1269A>G | XP_016857047.1:p.Pro423= | |
| NM_001256463.2:c.1338A>G | NP_001243392.1:p.Pro446= | |
| NM_017871.6:c.1641A>G MANE Select | NP_060341.2:p.Pro547= | |
| NM_001256456.2:c.1659A>G | NP_001243385.1:p.Pro553= | |
| NM_001256460.2:c.1554A>G | NP_001243389.1:p.Pro518= | |
| NM_001256462.2:c.1347A>G | NP_001243391.1:p.Pro449= |