gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Genomes Max Group AF
0.00000802 (AFR)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.96384213G>A , CM000673.2:g.96384213G>A | GRCh38 |
| NC_000011.9:g.96117377G>A , CM000673.1:g.96117377G>A | GRCh37 |
| NC_000011.8:g.95757025G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530106.2:c.535C>T | ENSP00000495640.1:p.Arg179Ter | |
| ENST00000530203.2:c.535C>T | ENSP00000431148.2:p.Arg179Ter | |
| ENST00000643839.1:c.535C>T | ENSP00000495913.1:p.Arg179Ter | |
| ENST00000644312.1:n.2243C>T | ||
| ENST00000644686.1:c.535C>T | ENSP00000495081.1:p.Arg179Ter | |
| ENST00000645302.1:n.5354C>T | ||
| ENST00000645366.1:c.535C>T | ENSP00000494629.1:p.Arg179Ter | |
| ENST00000645439.1:c.535C>T | ENSP00000495063.1:p.Arg179Ter | |
| ENST00000645500.1:c.535C>T | ENSP00000495485.1:p.Arg179Ter | |
| ENST00000646050.1:c.535C>T | ENSP00000495406.1:p.Arg179Ter | |
| ENST00000646638.1:c.535C>T | ENSP00000494657.1:p.Arg179Ter | |
| ENST00000646818.2:c.535C>T MANE Select | ENSP00000496393.1:p.Arg179Ter | |
| ENST00000647080.1:c.535C>T | ENSP00000493876.1:p.Arg179Ter | |
| ENST00000647522.1:n.751C>T | ||
| ENST00000679577.1:n.5567C>T | ||
| ENST00000679616.1:c.535C>T | ENSP00000504968.1:p.Arg179Ter | |
| ENST00000679696.1:c.-330-740C>T | ENSP00000505581.1:n.-330-740C>T | |
| ENST00000679708.1:c.535C>T | ENSP00000506371.1:p.Arg179Ter | |
| ENST00000679788.1:c.535C>T | ENSP00000505510.1:p.Arg179Ter | |
| ENST00000679856.1:c.535C>T | ENSP00000505833.1:p.Arg179Ter | |
| ENST00000679960.1:c.535C>T | ENSP00000506164.1:p.Arg179Ter | |
| ENST00000680049.1:n.2243C>T | ||
| ENST00000680052.1:c.535C>T | ENSP00000505054.1:p.Arg179Ter | |
| ENST00000680171.1:c.535C>T | ENSP00000505858.1:p.Arg179Ter | |
| ENST00000680322.1:n.214+2041C>T | ||
| ENST00000680532.1:c.-116+2041C>T | ENSP00000506206.1:n.-116+2041C>T | |
| ENST00000680728.1:c.466C>T | ENSP00000506715.1:p.Arg156Ter | |
| ENST00000680763.1:c.535C>T | ENSP00000504912.1:p.Arg179Ter | |
| ENST00000680859.1:c.535C>T | ENSP00000506687.1:p.Arg179Ter | |
| ENST00000680979.1:c.535C>T | ENSP00000505977.1:p.Arg179Ter | |
| ENST00000681014.1:c.-330-740C>T | ENSP00000505643.1:n.-330-740C>T | |
| ENST00000681164.1:c.535C>T | ENSP00000506296.1:p.Arg179Ter | |
| ENST00000681200.1:c.-330-740C>T | ENSP00000505140.1:n.-330-740C>T | |
| ENST00000681451.1:c.535C>T | ENSP00000506065.1:p.Arg179Ter | |
| ENST00000681745.1:n.79-740C>T | ||
| ENST00000681868.1:n.2057C>T | ||
| ENST00000278520.9:c.535C>T | ENSP00000278520.5:p.Arg179Ter | |
| ENST00000423339.2:c.535C>T | ENSP00000397156.2:p.Arg179Ter | |
| ENST00000530106.1:n.557C>T | ||
| ENST00000538597.1:c.535C>T | ENSP00000442723.1:p.Arg179Ter | |
| NM_024725.3:c.535C>T | NP_079001.2:p.Arg179Ter | |
| XM_005274292.2:c.535C>T | XP_005274349.1:p.Arg179Ter | |
| XM_006718909.1:c.535C>T | XP_006718972.1:p.Arg179Ter | |
| XM_006718911.2:c.466C>T | XP_006718974.1:p.Arg156Ter | |
| XM_011542984.1:c.535C>T | XP_011541286.1:p.Arg179Ter | |
| XM_011542985.1:c.535C>T | XP_011541287.1:p.Arg179Ter | |
| XM_011542986.1:c.535C>T | XP_011541288.1:p.Arg179Ter | |
| XM_011542987.1:c.535C>T | XP_011541289.1:p.Arg179Ter | |
| XM_011542988.1:c.535C>T | XP_011541290.1:p.Arg179Ter | |
| XM_011542989.1:c.535C>T | XP_011541291.1:p.Arg179Ter | |
| NM_001318736.1:c.535C>T | NP_001305665.1:p.Arg179Ter | |
| NM_001318737.2:c.535C>T | NP_001305666.1:p.Arg179Ter | |
| NM_001363594.1:c.466C>T | NP_001350523.1:p.Arg156Ter | |
| XM_005274292.3:c.535C>T | XP_005274349.1:p.Arg179Ter | |
| XM_006718911.4:c.466C>T | XP_006718974.1:p.Arg156Ter | |
| XM_011542984.3:c.535C>T | XP_011541286.1:p.Arg179Ter | |
| XM_011542987.3:c.535C>T | XP_011541289.1:p.Arg179Ter | |
| XM_011542988.3:c.535C>T | XP_011541290.1:p.Arg179Ter | |
| XM_017018307.1:c.535C>T | XP_016873796.1:p.Arg179Ter | |
| XM_017018310.1:c.535C>T | XP_016873799.1:p.Arg179Ter | |
| XM_024448690.1:c.535C>T | XP_024304458.1:p.Arg179Ter | |
| XM_024448691.1:c.535C>T | XP_024304459.1:p.Arg179Ter | |
| XM_024448692.1:c.535C>T | XP_024304460.1:p.Arg179Ter | |
| XM_024448693.1:c.535C>T | XP_024304461.1:p.Arg179Ter | |
| XM_024448694.1:c.535C>T | XP_024304462.1:p.Arg179Ter | |
| NM_024725.4:c.535C>T MANE Select | NP_079001.2:p.Arg179Ter | |
| NM_001318737.3:c.535C>T | NP_001305666.1:p.Arg179Ter | |
| NM_001318736.2:c.535C>T | NP_001305665.1:p.Arg179Ter | |
| NM_001363594.2:c.466C>T | NP_001350523.1:p.Arg156Ter |