COSMIC:
COSM5019056 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0632783 (EAS)
Genomes Max Group AF
0.05575261 (EAS)
Exomes Max Group AF
0.06629912 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56872885C>T , CM000667.2:g.56872885C>T | GRCh38 |
| NC_000005.9:g.56168712C>T , CM000667.1:g.56168712C>T | GRCh37 |
| NC_000005.8:g.56204469C>T | NCBI36 |
| NG_031884.1:g.62813C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.1566C>T MANE Select | ENSP00000382423.3:p.Thr522= | |
| ENST00000399503.3:c.1566C>T | ENSP00000382423.3:p.Thr522= | |
| NM_005921.1:c.1566C>T | NP_005912.1:p.Thr522= | |
| XM_005248519.3:c.1188C>T | XP_005248576.2:p.Thr396= | |
| XM_011543406.1:c.1311C>T | XP_011541708.1:p.Thr437= | |
| XM_011543407.1:c.1566C>T | XP_011541709.1:p.Thr522= | |
| XM_011543408.1:c.1566C>T | XP_011541710.1:p.Thr522= | |
| XM_017009484.1:c.1155C>T | XP_016864973.1:p.Thr385= | |
| XM_017009485.1:c.1077C>T | XP_016864974.1:p.Thr359= | |
| XR_001742068.2:n.1597C>T | ||
| NM_005921.2:c.1566C>T MANE Select | NP_005912.1:p.Thr522= |