gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00561928 (SAS)
Genomes Max Group AF
0.00237958 (SAS)
Exomes Max Group AF
0.00569359 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150671484C>T , CM000685.2:g.150671484C>T | GRCh38 |
| NC_000023.10:g.149839957C>T , CM000685.1:g.149839957C>T | GRCh37 |
| NC_000023.9:g.149590615C>T | NCBI36 |
| NG_008199.1:g.107911C>T , LRG_839:g.107911C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.*1234C>T | ENSP00000509844.1:n.*1234C>T | |
| ENST00000685439.1:c.1356C>T | ENSP00000508454.1:p.Tyr452= | |
| ENST00000685944.1:c.1701C>T | ENSP00000509266.1:p.Tyr567= | |
| ENST00000686212.1:n.1303C>T | ||
| ENST00000687215.1:c.*1456C>T | ENSP00000509706.1:n.*1456C>T | |
| ENST00000688152.1:c.*1145C>T | ENSP00000509360.1:n.*1145C>T | |
| ENST00000688403.1:c.957C>T | ENSP00000508944.1:p.Tyr319= | |
| ENST00000689314.1:c.1746C>T | ENSP00000510607.1:p.Tyr582= | |
| ENST00000689694.1:c.1701C>T | ENSP00000508718.1:p.Tyr567= | |
| ENST00000689810.1:c.*1350C>T | ENSP00000510635.1:n.*1350C>T | |
| ENST00000690282.1:c.957C>T | ENSP00000509809.1:p.Tyr319= | |
| ENST00000690351.1:c.*1353C>T | ENSP00000509728.1:n.*1353C>T | |
| ENST00000691232.1:c.1356C>T | ENSP00000509675.1:p.Tyr452= | |
| ENST00000691482.1:n.5664C>T | ||
| ENST00000691686.1:c.1608C>T | ENSP00000509784.1:p.Tyr536= | |
| ENST00000691851.1:c.1110C>T | ENSP00000510106.1:p.Tyr370= | |
| ENST00000692015.1:c.1488C>T | ENSP00000510634.1:p.Tyr496= | |
| ENST00000692638.1:c.*1499C>T | ENSP00000509412.1:n.*1499C>T | |
| ENST00000692852.1:c.1512C>T | ENSP00000510337.1:p.Tyr504= | |
| ENST00000692915.1:c.*1847C>T | ENSP00000508547.1:n.*1847C>T | |
| ENST00000370396.7:c.1701C>T MANE Select | ENSP00000359423.3:p.Tyr567= | |
| ENST00000306167.11:n.1565C>T | ||
| ENST00000370396.6:c.1701C>T | ENSP00000359423.2:p.Tyr567= | |
| NM_000252.2:c.1701C>T , LRG_839t1:c.1701C>T | NP_000243.1:p.Tyr567= | |
| XM_005274687.2:c.1701C>T | XP_005274744.1:p.Tyr567= | |
| XM_011531170.1:c.1764C>T | XP_011529472.1:p.Tyr588= | |
| XM_011531171.1:c.1746C>T | XP_011529473.1:p.Tyr582= | |
| XM_011531172.1:c.1746C>T | XP_011529474.1:p.Tyr582= | |
| XM_011531173.1:c.1701C>T | XP_011529475.1:p.Tyr567= | |
| XM_011531173.2:c.1701C>T | XP_011529475.1:p.Tyr567= | |
| XM_017029547.1:c.1743C>T | XP_016885036.1:p.Tyr581= | |
| XM_017029548.1:c.1746C>T | XP_016885037.1:p.Tyr582= | |
| XM_017029549.1:c.1698C>T | XP_016885038.1:p.Tyr566= | |
| XM_017029550.1:c.1590C>T | XP_016885039.1:p.Tyr530= | |
| XM_017029551.2:c.957C>T | XP_016885040.1:p.Tyr319= | |
| NM_000252.3:c.1701C>T MANE Select | NP_000243.1:p.Tyr567= | |
| NM_001376906.1:c.1698C>T | NP_001363835.1:p.Tyr566= | |
| NM_001376907.1:c.1590C>T | NP_001363836.1:p.Tyr530= | |
| NM_001376908.1:c.1701C>T | NP_001363837.1:p.Tyr567= |