gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99848438 (NFE)
Genomes Max Group AF
0.99370281 (NFE)
Exomes Max Group AF
0.99843839 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.82867191A>T , CM000666.2:g.82867191A>T | GRCh38 |
| NC_000004.11:g.83788344A>T , CM000666.1:g.83788344A>T | GRCh37 |
| NC_000004.10:g.84007368A>T | NCBI36 |
| NG_029569.3:g.38381T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395310.7:c.1008T>A MANE Select | ENSP00000378721.2:p.Gly336= | |
| ENST00000264405.9:c.324T>A | ENSP00000264405.5:p.Gly108= | |
| ENST00000311785.11:c.1008T>A | ENSP00000309070.7:p.Gly336= | |
| ENST00000348405.8:c.1008T>A | ENSP00000337602.5:p.Gly336= | |
| ENST00000355196.6:c.1008T>A | ENSP00000347329.2:p.Gly336= | |
| ENST00000395310.6:c.1008T>A | ENSP00000378721.2:p.Gly336= | |
| ENST00000436790.6:n.1109T>A | ||
| ENST00000443462.6:c.993T>A | ENSP00000408027.2:p.Gly331= | |
| ENST00000448323.5:c.1008T>A | ENSP00000400926.1:p.Gly336= | |
| ENST00000500777.6:c.1008T>A | ENSP00000421464.1:p.Gly336= | |
| ENST00000505472.5:c.1008T>A | ENSP00000421633.1:p.Gly336= | |
| ENST00000505984.5:c.1008T>A | ENSP00000424451.1:p.Gly336= | |
| ENST00000508479.5:c.1008T>A | ENSP00000425999.1:p.Gly336= | |
| ENST00000508502.5:c.1008T>A | ENSP00000424635.1:p.Gly336= | |
| ENST00000509142.5:c.1008T>A | ENSP00000426569.1:p.Gly336= | |
| ENST00000513858.5:c.1008T>A | ENSP00000426886.1:p.Gly336= | |
| XM_005262850.1:c.1008T>A | XP_005262907.1:p.Gly336= | |
| XM_011531746.1:c.1008T>A | XP_011530048.1:p.Gly336= | |
| XM_011531747.1:c.1008T>A | XP_011530049.1:p.Gly336= | |
| XM_011531748.1:c.1008T>A | XP_011530050.1:p.Gly336= | |
| XM_011531749.1:c.1008T>A | XP_011530051.1:p.Gly336= | |
| NM_001077207.4:c.1008T>A MANE Select | NP_001070675.1:p.Gly336= | |
| NM_001077206.4:c.1008T>A | NP_001070674.1:p.Gly336= | |
| NM_001077208.4:c.1008T>A | NP_001070676.1:p.Gly336= | |
| NM_001300744.3:c.1008T>A | NP_001287673.1:p.Gly336= | |
| NM_001300745.3:c.1008T>A | NP_001287674.1:p.Gly336= | |
| NM_001318119.2:c.1008T>A | NP_001305048.1:p.Gly336= | |
| NM_001318120.2:c.1008T>A | NP_001305049.1:p.Gly336= | |
| NM_016211.5:c.1008T>A | NP_057295.2:p.Gly336= | |
| NM_001400154.1:c.1008T>A | NP_001387083.1:p.Gly336= | |
| NM_001400155.1:c.1008T>A | NP_001387084.1:p.Gly336= | |
| NM_001400156.1:c.1008T>A | NP_001387085.1:p.Gly336= | |
| NM_001400157.1:c.1008T>A | NP_001387086.1:p.Gly336= | |
| NM_001400158.1:c.1008T>A | NP_001387087.1:p.Gly336= | |
| NM_001400159.1:c.1008T>A | NP_001387088.1:p.Gly336= | |
| NM_001400160.1:c.1008T>A | NP_001387089.1:p.Gly336= | |
| NM_001400161.1:c.1008T>A | NP_001387090.1:p.Gly336= | |
| NM_001400162.1:c.1008T>A | NP_001387091.1:p.Gly336= | |
| NM_001400164.1:c.1008T>A | NP_001387093.1:p.Gly336= | |
| NM_001400165.1:c.1008T>A | NP_001387094.1:p.Gly336= | |
| NM_001400166.1:c.1008T>A | NP_001387095.1:p.Gly336= | |
| NM_001400167.1:c.1008T>A | NP_001387096.1:p.Gly336= | |
| NM_001400168.1:c.1008T>A | NP_001387097.1:p.Gly336= | |
| NM_001400180.1:c.1008T>A | NP_001387109.1:p.Gly336= | |
| NM_001400184.1:c.1008T>A | NP_001387113.1:p.Gly336= | |
| NM_001400186.1:c.1008T>A | NP_001387115.1:p.Gly336= | |
| NM_001400188.1:c.1008T>A | NP_001387117.1:p.Gly336= | |
| NM_001400190.1:c.1008T>A | NP_001387119.1:p.Gly336= | |
| NM_001400191.1:c.1008T>A | NP_001387120.1:p.Gly336= | |
| NM_001400193.1:c.1008T>A | NP_001387122.1:p.Gly336= | |
| NM_001400194.1:c.1008T>A | NP_001387123.1:p.Gly336= | |
| NM_001400197.1:c.1008T>A | NP_001387126.1:p.Gly336= | |
| NM_001400198.1:c.1008T>A | NP_001387127.1:p.Gly336= | |
| NM_001400200.1:c.1008T>A | NP_001387129.1:p.Gly336= | |
| NM_001400202.1:c.1008T>A | NP_001387131.1:p.Gly336= | |
| NM_001400203.1:c.1008T>A | NP_001387132.1:p.Gly336= | |
| NM_001400204.1:c.1008T>A | NP_001387133.1:p.Gly336= | |
| NM_001400205.1:c.1008T>A | NP_001387134.1:p.Gly336= | |
| NM_001400206.1:c.1008T>A | NP_001387135.1:p.Gly336= | |
| NM_001400207.1:c.1008T>A | NP_001387136.1:p.Gly336= | |
| NM_001400208.1:c.1008T>A | NP_001387137.1:p.Gly336= | |
| NM_001400209.1:c.1008T>A | NP_001387138.1:p.Gly336= | |
| NM_001400210.1:c.1008T>A | NP_001387139.1:p.Gly336= | |
| NM_001400211.1:c.1008T>A | NP_001387140.1:p.Gly336= | |
| NM_001400212.1:c.993T>A | NP_001387141.1:p.Gly331= | |
| NM_001400213.1:c.1008T>A | NP_001387142.1:p.Gly336= | |
| NM_001400214.1:c.993T>A | NP_001387143.1:p.Gly331= | |
| NM_001400215.1:c.846T>A | NP_001387144.1:p.Gly282= | |
| NM_001400216.1:c.1008T>A | NP_001387145.1:p.Gly336= | |
| NM_001400217.1:c.1008T>A | NP_001387146.1:p.Gly336= | |
| NM_001400218.1:c.1008T>A | NP_001387147.1:p.Gly336= | |
| NM_001400219.1:c.1008T>A | NP_001387148.1:p.Gly336= | |
| NM_001400220.1:c.1008T>A | NP_001387149.1:p.Gly336= | |
| NM_001400221.1:c.1008T>A | NP_001387150.1:p.Gly336= | |
| NM_001400222.1:c.1008T>A | NP_001387151.1:p.Gly336= | |
| NM_001400223.1:c.1008T>A | NP_001387152.1:p.Gly336= | |
| NM_001400224.1:c.534T>A | NP_001387153.1:p.Gly178= |