COSMIC:
COSM3937834 (not active)
COSM6280252 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43250086 (AFR)
Genomes Max Group AF
0.42357395 (AFR)
Exomes Max Group AF
0.44039278 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11236817T>C , CM000681.2:g.11236817T>C | GRCh38 |
| NC_000019.9:g.11347493T>C , CM000681.1:g.11347493T>C | GRCh37 |
| NC_000019.8:g.11208493T>C | NCBI36 |
| NG_031953.1:g.30676A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.2136A>G | ENSP00000468638.2:p.Thr712= | |
| ENST00000294618.12:c.2136A>G MANE Select | ENSP00000294618.6:p.Thr712= | |
| ENST00000294618.11:c.2136A>G | ENSP00000294618.6:p.Thr712= | |
| ENST00000590680.5:c.479A>G | ||
| ENST00000591750.1:n.2105A>G | ||
| NM_020812.3:c.2136A>G | NP_065863.2:p.Thr712= | |
| XM_005260000.2:c.2136A>G | XP_005260057.1:p.Thr712= | |
| XM_005260001.2:c.2136A>G | XP_005260058.1:p.Thr712= | |
| XM_011528150.1:c.2169A>G | XP_011526452.1:p.Thr723= | |
| XM_011528151.1:c.2169A>G | XP_011526453.1:p.Thr723= | |
| XM_011528152.1:c.2169A>G | XP_011526454.1:p.Thr723= | |
| XM_011528153.1:c.2169A>G | XP_011526455.1:p.Thr723= | |
| XR_936195.1:n.2230A>G | ||
| XR_936196.1:n.2230A>G | ||
| XR_936197.1:n.2230A>G | ||
| XR_936198.1:n.2230A>G | ||
| NM_001367830.1:c.2136A>G | NP_001354759.1:p.Thr712= | |
| NM_020812.4:c.2136A>G MANE Select | NP_065863.2:p.Thr712= |