COSMIC:
COSM1239450 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14372594 (EAS)
Genomes Max Group AF
0.1373752 (EAS)
Exomes Max Group AF
0.14362701 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55485695C>T , CM000678.2:g.55485695C>T | GRCh38 |
| NC_000016.9:g.55519607C>T , CM000678.1:g.55519607C>T | GRCh37 |
| NC_000016.8:g.54077108C>T | NCBI36 |
| NG_008989.1:g.11527C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219070.9:c.750C>T MANE Select | ENSP00000219070.4:p.Thr250= | |
| ENST00000219070.8:c.750C>T | ENSP00000219070.4:p.Thr250= | |
| ENST00000437642.6:c.600C>T | ENSP00000394237.2:p.Thr200= | |
| ENST00000543485.5:c.522C>T | ENSP00000444143.1:p.Thr174= | |
| ENST00000564864.5:c.522C>T | ENSP00000456096.1:p.Thr174= | |
| ENST00000570308.5:c.522C>T | ENSP00000461421.1:p.Thr174= | |
| NM_001127891.2:c.600C>T | NP_001121363.1:p.Thr200= | |
| NM_001302508.1:c.522C>T | NP_001289437.1:p.Thr174= | |
| NM_001302509.1:c.522C>T | NP_001289438.1:p.Thr174= | |
| NM_001302510.1:c.522C>T | NP_001289439.1:p.Thr174= | |
| NM_004530.5:c.750C>T | NP_004521.1:p.Thr250= | |
| NM_004530.6:c.750C>T MANE Select | NP_004521.1:p.Thr250= | |
| NM_001127891.3:c.600C>T | NP_001121363.1:p.Thr200= | |
| NM_001302509.2:c.522C>T | NP_001289438.1:p.Thr174= | |
| NM_001302510.2:c.522C>T | NP_001289439.1:p.Thr174= |