COSMIC:
COSM4003133 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28115233 (EAS)
Genomes Max Group AF
0.26238622 (EAS)
Exomes Max Group AF
0.28231275 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73076961C>T , CM000666.2:g.73076961C>T | GRCh38 |
| NC_000004.11:g.73942678C>T , CM000666.1:g.73942678C>T | GRCh37 |
| NC_000004.10:g.74161542C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358602.9:c.7731G>A MANE Select | ENSP00000351416.4:p.Thr2577= | |
| ENST00000330838.10:c.6978G>A | ENSP00000332265.6:p.Thr2326= | |
| ENST00000358602.8:c.7731G>A | ENSP00000351416.4:p.Thr2577= | |
| ENST00000509867.6:c.7392G>A | ENSP00000427151.2:p.Thr2464= | |
| ENST00000558247.5:c.7382G>A | ||
| NM_001286771.1:c.7392G>A | NP_001273700.1:p.Thr2464= | |
| NM_032217.3:c.7731G>A | NP_115593.3:p.Thr2577= | |
| NM_198889.1:c.6978G>A | NP_942592.1:p.Thr2326= | |
| XM_005265667.3:c.7728G>A | XP_005265724.1:p.Thr2576= | |
| XM_005265671.3:c.6975G>A | XP_005265728.1:p.Thr2325= | |
| NM_001286771.2:c.7392G>A | NP_001273700.1:p.Thr2464= | |
| NM_015574.1:c.7728G>A | NP_056389.1:p.Thr2576= | |
| NM_032217.4:c.7731G>A | NP_115593.3:p.Thr2577= | |
| NM_198889.2:c.6978G>A | NP_942592.1:p.Thr2326= | |
| XM_005265671.4:c.6975G>A | XP_005265728.1:p.Thr2325= | |
| XM_017008011.1:c.7389G>A | XP_016863500.1:p.Thr2463= | |
| XM_017008012.1:c.6639G>A | XP_016863501.1:p.Thr2213= | |
| XM_017008013.1:c.6636G>A | XP_016863502.1:p.Thr2212= | |
| NM_001286771.3:c.7392G>A | NP_001273700.1:p.Thr2464= | |
| NM_015574.2:c.7728G>A | NP_056389.1:p.Thr2576= | |
| NM_032217.5:c.7731G>A MANE Select | NP_115593.3:p.Thr2577= | |
| NM_198889.3:c.6978G>A | NP_942592.1:p.Thr2326= |