COSMIC:
COSM3997838 (not active)
COSM3997839 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21062633 (AMR)
Genomes Max Group AF
0.1859323 (AMR)
Exomes Max Group AF
0.21758716 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129707928C>T , CM000672.2:g.129707928C>T | GRCh38 |
| NC_000010.10:g.131506192C>T , CM000672.1:g.131506192C>T | GRCh37 |
| NC_000010.9:g.131396182C>T | NCBI36 |
| NG_052673.1:g.245745C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.252C>T | ENSP00000302111.7:p.Leu84= | |
| ENST00000651593.1:c.159C>T MANE Select | ENSP00000498729.1:p.Leu53= | |
| ENST00000306010.7:c.252C>T | ENSP00000302111.7:p.Leu84= | |
| ENST00000462672.1:n.320C>T | ||
| NM_002412.3:c.252C>T | NP_002403.2:p.Leu84= | |
| NM_002412.4:c.252C>T | NP_002403.2:p.Leu84= | |
| XM_005252682.2:c.159C>T | XP_005252739.1:p.Leu53= | |
| XM_006717863.2:c.-19C>T | XP_006717926.1:n.-19C>T | |
| XM_011539817.1:c.168C>T | XP_011538119.1:p.Leu56= | |
| NM_002412.5:c.159C>T MANE Select | NP_002403.3:p.Leu53= | |
| XM_017016275.1:c.-19C>T | XP_016871764.1:n.-19C>T |