COSMIC:
COSM4418863 (not active)
COSM4418864 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50272558 (SAS)
Genomes Max Group AF
0.49519985 (SAS)
Exomes Max Group AF
0.5023166 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33670403C>T , CM000668.2:g.33670403C>T | GRCh38 |
| NC_000006.11:g.33638180C>T , CM000668.1:g.33638180C>T | GRCh37 |
| NC_000006.10:g.33746158C>T | NCBI36 |
| NG_027729.1:g.54025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.2268C>T MANE Select | ENSP00000475177.1:p.Gly756= | |
| ENST00000374316.9:c.2268C>T | ENSP00000363435.4:p.Gly756= | |
| ENST00000605930.2:c.2268C>T | ENSP00000475177.1:p.Gly756= | |
| NM_002224.3:c.2268C>T | NP_002215.2:p.Gly756= | |
| XM_011514576.1:c.2337C>T | XP_011512878.1:p.Gly779= | |
| XM_011514577.1:c.2085C>T | XP_011512879.1:p.Gly695= | |
| XM_011514577.3:c.2085C>T | XP_011512879.1:p.Gly695= | |
| XM_017010832.1:c.2268C>T | XP_016866321.1:p.Gly756= | |
| NM_002224.4:c.2268C>T MANE Select | NP_002215.2:p.Gly756= |