COSMIC:
COSM4507823 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000387 (EAS)
Genomes Max Group AF
0.00063342 (EAS)
Exomes Max Group AF
0.00029332 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21196975C>T , CM000674.2:g.21196975C>T | GRCh38 |
| NC_000012.11:g.21349909C>T , CM000674.1:g.21349909C>T | GRCh37 |
| NC_000012.10:g.21241176C>T | NCBI36 |
| NG_011745.1:g.70782C>T , LRG_1022:g.70782C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.757C>T MANE Select | ENSP00000256958.2:p.Arg253Ter | |
| ENST00000256958.2:c.757C>T | ENSP00000256958.2:p.Arg253Ter | |
| NM_006446.4:c.757C>T , LRG_1022t1:c.757C>T | NP_006437.3:p.Arg253Ter | |
| NM_006446.5:c.757C>T MANE Select | NP_006437.3:p.Arg253Ter |