ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012396 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00012977 (NFE)
Revel Score:
ENST00000343455 (MANE Select)
0.234
ENST00000526495
0.234
ENST00000393063
0.234
ENST00000527414
0.234
ENST00000556045
0.234
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95091214C>T , CM000676.2:g.95091214C>T | GRCh38 |
| NC_000014.8:g.95557551C>T , CM000676.1:g.95557551C>T | GRCh37 |
| NC_000014.7:g.94627304C>T | NCBI36 |
| NG_016311.1:g.71209G>A , LRG_492:g.71209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529720.2:c.5516G>A | ENSP00000433926.2:p.Arg1839Gln | |
| ENST00000531162.7:c.5516G>A | ENSP00000433060.3:p.Arg1839Gln | |
| ENST00000674628.2:c.5516G>A | ENSP00000502730.2:p.Arg1839Gln | |
| ENST00000675540.2:c.*2166G>A | ENSP00000501988.2:n.*2166G>A | |
| ENST00000696733.1:c.*138G>A | ENSP00000512838.1:n.*138G>A | |
| ENST00000696734.1:c.*171G>A | ENSP00000512839.1:n.*171G>A | |
| ENST00000696735.1:n.2503G>A | ||
| ENST00000696736.1:c.5516G>A | ENSP00000512840.1:p.Arg1839Gln | |
| ENST00000696920.1:n.5779G>A | ||
| ENST00000696921.1:n.6622G>A | ||
| ENST00000696922.1:n.8447G>A | ||
| ENST00000696923.1:c.*171G>A | ENSP00000512976.1:n.*171G>A | |
| ENST00000696924.1:c.*138G>A | ENSP00000512977.1:n.*138G>A | |
| ENST00000696925.1:n.8447G>A | ||
| ENST00000343455.8:c.5516G>A MANE Select | ENSP00000343745.3:p.Arg1839Gln | |
| ENST00000393063.6:c.5516G>A | ENSP00000376783.1:p.Arg1839Gln | |
| ENST00000526495.6:c.5516G>A | ENSP00000437256.1:p.Arg1839Gln | |
| ENST00000556045.6:c.*233G>A | ENSP00000451041.2:n.*233G>A | |
| ENST00000675540.1:c.3261G>A | ENSP00000501988.1:n.3261G>A | |
| ENST00000675995.1:c.*3832G>A | ENSP00000502591.1:n.*3832G>A | |
| ENST00000343455.7:c.5516G>A | ENSP00000343745.3:p.Arg1839Gln | |
| ENST00000393063.5:c.5516G>A | ENSP00000376783.1:p.Arg1839Gln | |
| ENST00000526495.5:c.5516G>A | ENSP00000437256.1:p.Arg1839Gln | |
| ENST00000527414.5:c.5516G>A | ENSP00000435681.1:p.Arg1839Gln | |
| ENST00000527416.2:n.109G>A | ||
| ENST00000527554.2:n.209G>A | ||
| ENST00000541352.5:c.5365-105G>A | ENSP00000444719.1:n.5365-105G>A | |
| ENST00000556045.5:c.2210G>A | ENSP00000451041.1:p.Arg737Gln | |
| NM_001195573.1:c.5365-105G>A | NP_001182502.1:n.5365-105G>A | |
| NM_001271282.2:c.5516G>A | NP_001258211.1:p.Arg1839Gln | |
| NM_001291628.1:c.5516G>A | NP_001278557.1:p.Arg1839Gln | |
| NM_030621.4:c.5516G>A | NP_085124.2:p.Arg1839Gln | |
| NM_177438.2:c.5516G>A , LRG_492t1:c.5516G>A | NP_803187.1:p.Arg1839Gln | |
| XM_011536599.1:c.5516G>A | XP_011534901.1:p.Arg1839Gln | |
| XM_011536600.1:c.5516G>A | XP_011534902.1:p.Arg1839Gln | |
| XM_011536601.1:c.5516G>A | XP_011534903.1:p.Arg1839Gln | |
| XM_011536602.1:c.5516G>A | XP_011534904.1:p.Arg1839Gln | |
| XM_011536603.1:c.5516G>A | XP_011534905.1:p.Arg1839Gln | |
| XM_011536604.1:c.5111G>A | XP_011534906.1:p.Arg1704Gln | |
| XM_011536605.1:c.4037G>A | XP_011534907.1:p.Arg1346Gln | |
| XM_011536599.2:c.5516G>A | XP_011534901.1:p.Arg1839Gln | |
| XM_011536600.3:c.5516G>A | XP_011534902.1:p.Arg1839Gln | |
| XM_011536601.3:c.5516G>A | XP_011534903.1:p.Arg1839Gln | |
| XM_011536602.3:c.5516G>A | XP_011534904.1:p.Arg1839Gln | |
| XM_011536604.2:c.5111G>A | XP_011534906.1:p.Arg1704Gln | |
| XM_011536605.2:c.4037G>A | XP_011534907.1:p.Arg1346Gln | |
| XM_017021120.2:c.5516G>A | XP_016876609.1:p.Arg1839Gln | |
| XM_017021121.2:c.5516G>A | XP_016876610.1:p.Arg1839Gln | |
| XM_017021122.2:c.5111G>A | XP_016876611.1:p.Arg1704Gln | |
| XM_017021123.2:c.5111G>A | XP_016876612.1:p.Arg1704Gln | |
| NM_001271282.3:c.5516G>A | NP_001258211.1:p.Arg1839Gln | |
| NM_001291628.2:c.5516G>A | NP_001278557.1:p.Arg1839Gln | |
| NM_177438.3:c.5516G>A MANE Select | NP_803187.1:p.Arg1839Gln | |
| NM_001395677.1:c.5516G>A | NP_001382606.1:p.Arg1839Gln | |
| NM_001395678.1:c.5516G>A | NP_001382607.1:p.Arg1839Gln | |
| NM_001395679.1:c.5516G>A | NP_001382608.1:p.Arg1839Gln | |
| NM_001395680.1:c.5516G>A | NP_001382609.1:p.Arg1839Gln | |
| NM_001395682.1:c.5516G>A | NP_001382611.1:p.Arg1839Gln | |
| NM_001395683.1:c.5516G>A | NP_001382612.1:p.Arg1839Gln | |
| NM_001395684.1:c.5516G>A | NP_001382613.1:p.Arg1839Gln | |
| NM_001395685.1:c.5516G>A | NP_001382614.1:p.Arg1839Gln | |
| NM_001395686.1:c.5234G>A | NP_001382615.1:p.Arg1745Gln | |
| NM_001395687.1:c.5111G>A | NP_001382616.1:p.Arg1704Gln | |
| NM_001395688.1:c.5111G>A | NP_001382617.1:p.Arg1704Gln | |
| NM_001395689.1:c.5111G>A | NP_001382618.1:p.Arg1704Gln | |
| NM_001395690.1:c.5111G>A | NP_001382619.1:p.Arg1704Gln | |
| NM_001395691.1:c.4949G>A | NP_001382620.1:p.Arg1650Gln | |
| NM_001395697.1:c.3833G>A | NP_001382626.1:p.Arg1278Gln | |
| NR_172715.1:n.5934G>A | ||
| NR_172716.1:n.6118G>A | ||
| NR_172717.1:n.6028G>A | ||
| NR_172718.1:n.5951G>A | ||
| NR_172719.1:n.5784G>A | ||
| NR_172720.1:n.5987G>A |