gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34768367 (EAS)
Genomes Max Group AF
0.32180314 (EAS)
Exomes Max Group AF
0.3496302 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156909788C>T , CM000663.2:g.156909788C>T | GRCh38 |
| NC_000001.10:g.156879580C>T , CM000663.1:g.156879580C>T | GRCh37 |
| NC_000001.9:g.155146204C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292357.8:c.1449C>T MANE Select | ENSP00000292357.7:p.Pro483= | |
| ENST00000292357.7:c.1449C>T | ENSP00000292357.7:p.Pro483= | |
| ENST00000338302.7:c.1449C>T | ENSP00000344465.3:p.Pro483= | |
| ENST00000469390.5:n.1177C>T | ||
| NM_001080471.1:c.1449C>T | NP_001073940.1:p.Pro483= | |
| XM_005245141.2:c.1449C>T | XP_005245198.1:p.Pro483= | |
| XM_006711302.2:c.1476C>T | XP_006711365.1:p.Pro492= | |
| XM_011509508.1:c.1476C>T | XP_011507810.1:p.Pro492= | |
| XM_011509509.1:c.1476C>T | XP_011507811.1:p.Pro492= | |
| XM_011509510.1:c.1449C>T | XP_011507812.1:p.Pro483= | |
| XM_011509511.1:c.1344C>T | XP_011507813.1:p.Pro448= | |
| XM_011509512.1:c.942C>T | XP_011507814.1:p.Pro314= | |
| NM_001353682.1:c.1257C>T | NP_001340611.1:p.Pro419= | |
| NM_001353683.1:c.1257C>T | NP_001340612.1:p.Pro419= | |
| XM_005245141.3:c.1449C>T | XP_005245198.1:p.Pro483= | |
| XM_011509510.2:c.1449C>T | XP_011507812.1:p.Pro483= | |
| XM_011509511.2:c.1344C>T | XP_011507813.1:p.Pro448= | |
| XM_011509512.2:c.942C>T | XP_011507814.1:p.Pro314= | |
| XM_017001234.2:c.1713C>T | XP_016856723.1:p.Pro571= | |
| XM_017001235.2:c.1581C>T | XP_016856724.1:p.Pro527= | |
| XM_017001236.1:c.1449C>T | XP_016856725.1:p.Pro483= | |
| XM_017001238.1:c.1257C>T | XP_016856727.1:p.Pro419= | |
| XM_017001239.1:c.1257C>T | XP_016856728.1:p.Pro419= | |
| XM_017001240.1:c.1065C>T | XP_016856729.1:p.Pro355= | |
| XM_017001241.1:c.1065C>T | XP_016856730.1:p.Pro355= | |
| XM_017001242.1:c.1065C>T | XP_016856731.1:p.Pro355= | |
| NM_001353682.2:c.1257C>T | NP_001340611.1:p.Pro419= | |
| NM_001353683.2:c.1257C>T | NP_001340612.1:p.Pro419= | |
| NM_001080471.3:c.1449C>T MANE Select | NP_001073940.1:p.Pro483= |