COSMIC:
COSM5019115 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13357213 (EAS)
Genomes Max Group AF
0.10968077 (EAS)
Exomes Max Group AF
0.13584277 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56882284A>G , CM000667.2:g.56882284A>G | GRCh38 |
| NC_000005.9:g.56178111A>G , CM000667.1:g.56178111A>G | GRCh37 |
| NC_000005.8:g.56213868A>G | NCBI36 |
| NG_031884.1:g.72212A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.3084A>G MANE Select | ENSP00000382423.3:p.Gln1028= | |
| ENST00000399503.3:c.3084A>G | ENSP00000382423.3:p.Gln1028= | |
| NM_005921.1:c.3084A>G | NP_005912.1:p.Gln1028= | |
| XM_005248519.3:c.2706A>G | XP_005248576.2:p.Gln902= | |
| XM_011543406.1:c.2829A>G | XP_011541708.1:p.Gln943= | |
| XM_011543407.1:c.2805A>G | XP_011541709.1:p.Gln935= | |
| XM_011543408.1:c.3084A>G | XP_011541710.1:p.Gln1028= | |
| XM_017009484.1:c.2673A>G | XP_016864973.1:p.Gln891= | |
| XM_017009485.1:c.2595A>G | XP_016864974.1:p.Gln865= | |
| XR_001742068.2:n.3115A>G | ||
| NM_005921.2:c.3084A>G MANE Select | NP_005912.1:p.Gln1028= |