COSMIC:
COSM4418261 (not active)
Revel Score:
ENST00000356231 (MANE Select)
0.247
ENST00000267892
0.247
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84210636 (AFR)
Genomes Max Group AF
0.82810236 (AFR)
Exomes Max Group AF
0.85436099 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42731284T>C , CM000677.2:g.42731284T>C | GRCh38 |
| NC_000015.9:g.43023482T>C , CM000677.1:g.43023482T>C | GRCh37 |
| NC_000015.8:g.40810774T>C | NCBI36 |
| NG_012491.1:g.10936A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.1787A>G MANE Select | ENSP00000348564.3:p.Gln596Arg | |
| ENST00000643434.1:c.*965A>G | ENSP00000494699.1:n.*965A>G | |
| ENST00000356231.3:c.1787A>G | ENSP00000348564.3:p.Gln596Arg | |
| NM_138477.2:c.1787A>G | NP_612486.2:p.Gln596Arg | |
| XM_005254176.3:c.1790A>G | XP_005254233.1:p.Gln597Arg | |
| XM_011521270.1:c.1814A>G | XP_011519572.1:p.Gln605Arg | |
| XM_011521271.1:c.1811A>G | XP_011519573.1:p.Gln604Arg | |
| XM_011521272.1:c.1814A>G | XP_011519574.1:p.Gln605Arg | |
| XM_011521273.1:c.1814A>G | XP_011519575.1:p.Gln605Arg | |
| XM_011521274.1:c.779A>G | XP_011519576.1:p.Gln260Arg | |
| XM_011521275.1:c.1031A>G | XP_011519577.1:p.Gln344Arg | |
| XR_931757.1:n.1825A>G | ||
| NM_138477.4:c.1787A>G MANE Select | NP_612486.2:p.Gln596Arg | |
| XM_005254176.5:c.1790A>G | XP_005254233.1:p.Gln597Arg | |
| XM_011521270.2:c.1814A>G | XP_011519572.1:p.Gln605Arg | |
| XM_011521271.2:c.1811A>G | XP_011519573.1:p.Gln604Arg | |
| XM_011521274.2:c.779A>G | XP_011519576.1:p.Gln260Arg | |
| XR_001751104.1:n.1844A>G | ||
| XR_001751105.1:n.1844A>G | ||
| XR_931757.2:n.1845A>G |