gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006043 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00005888 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21859902G>C , CM000663.2:g.21859902G>C | GRCh38 |
| NC_000001.10:g.22186395G>C , CM000663.1:g.22186395G>C | GRCh37 |
| NC_000001.9:g.22058982G>C | NCBI36 |
| NG_016740.1:g.82356C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.5115C>G MANE Select | ENSP00000363827.3:p.Pro1705= | |
| ENST00000374695.7:c.5115C>G | ENSP00000363827.3:p.Pro1705= | |
| NM_001291860.1:c.5118C>G | NP_001278789.1:p.Pro1706= | |
| NM_005529.6:c.5115C>G | NP_005520.4:p.Pro1705= | |
| XM_006710594.2:c.5661C>G | XP_006710657.1:p.Pro1887= | |
| XM_006710595.2:c.5613C>G | XP_006710658.1:p.Pro1871= | |
| XM_006710596.2:c.5592C>G | XP_006710659.1:p.Pro1864= | |
| XM_006710597.2:c.5115C>G | XP_006710660.1:p.Pro1705= | |
| XM_011541317.1:c.5664C>G | XP_011539619.1:p.Pro1888= | |
| XM_011541318.1:c.5664C>G | XP_011539620.1:p.Pro1888= | |
| XM_011541319.1:c.5664C>G | XP_011539621.1:p.Pro1888= | |
| XM_011541320.1:c.5664C>G | XP_011539622.1:p.Pro1888= | |
| XM_011541321.1:c.5169C>G | XP_011539623.1:p.Pro1723= | |
| XM_011541322.1:c.5664C>G | XP_011539624.1:p.Pro1888= | |
| XM_011541318.2:c.5664C>G | XP_011539620.1:p.Pro1888= | |
| XM_017001120.1:c.5310C>G | XP_016856609.1:p.Pro1770= | |
| XM_017001121.1:c.5259C>G | XP_016856610.1:p.Pro1753= | |
| XM_017001122.1:c.5256C>G | XP_016856611.1:p.Pro1752= | |
| NM_005529.7:c.5115C>G MANE Select | NP_005520.4:p.Pro1705= | |
| NM_001291860.2:c.5118C>G | NP_001278789.1:p.Pro1706= |