COSMIC:
COSM4418461 (not active)
Revel Score:
ENST00000321562 (MANE Select)
0.073
ENST00000414352
0.073
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11608442 (AFR)
Genomes Max Group AF
0.11574615 (AFR)
Exomes Max Group AF
0.11461501 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41818390A>G , CM000679.2:g.41818390A>G | GRCh38 |
| NC_000017.10:g.39974642A>G , CM000679.1:g.39974642A>G | GRCh37 |
| NC_000017.9:g.37228168A>G | NCBI36 |
| NG_015860.1:g.10681A>G , LRG_12:g.10681A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706683.1:c.590A>G | ENSP00000516497.1:p.Lys197Arg | |
| ENST00000321562.9:c.590A>G MANE Select | ENSP00000317232.4:p.Lys197Arg | |
| ENST00000321562.8:c.590A>G | ENSP00000317232.4:p.Lys197Arg | |
| ENST00000489591.5:c.444A>G | ENSP00000466352.1:p.Ter148= | |
| ENST00000585664.5:c.410A>G | ENSP00000468703.1:p.Lys137Arg | |
| NM_021939.3:c.590A>G , LRG_12t1:c.590A>G | NP_068758.3:p.Lys197Arg | |
| XM_011525099.1:c.590A>G | XP_011523401.1:p.Lys197Arg | |
| XM_011525100.1:c.317A>G | XP_011523402.1:p.Lys106Arg | |
| XM_011525099.3:c.590A>G | XP_011523401.1:p.Lys197Arg | |
| XM_011525100.2:c.317A>G | XP_011523402.1:p.Lys106Arg | |
| NM_021939.4:c.590A>G MANE Select | NP_068758.3:p.Lys197Arg |