COSMIC:
COSM3736478 (not active)
Revel Score:
ENST00000350339
0.231
ENST00000291744 (MANE Select)
0.231
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34033778 (AFR)
Genomes Max Group AF
0.34206935 (AFR)
Exomes Max Group AF
0.3349597 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134887180C>T , CM000671.2:g.134887180C>T | GRCh38 |
| NC_000009.11:g.137779026C>T , CM000671.1:g.137779026C>T | GRCh37 |
| NC_000009.10:g.136918847C>T | NCBI36 |
| NG_011649.1:g.11369C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291744.11:c.707C>T MANE Select | ENSP00000291744.6:p.Thr236Met | |
| ENST00000291744.10:c.707C>T | ENSP00000291744.6:p.Thr236Met | |
| ENST00000350339.3:c.593C>T | ENSP00000291741.5:p.Thr198Met | |
| NM_004108.2:c.707C>T | NP_004099.2:p.Thr236Met | |
| NM_015837.2:c.593C>T | NP_056652.1:p.Thr198Met | |
| XM_006717015.2:c.560C>T | XP_006717078.1:p.Thr187Met | |
| XM_011518392.1:c.674C>T | XP_011516694.1:p.Thr225Met | |
| XM_006717015.4:c.560C>T | XP_006717078.1:p.Thr187Met | |
| XM_011518392.3:c.674C>T | XP_011516694.1:p.Thr225Met | |
| NM_004108.3:c.707C>T MANE Select | NP_004099.2:p.Thr236Met | |
| NM_015837.3:c.593C>T | NP_056652.1:p.Thr198Met |