COSMIC:
COSM6178815 (not active)
Revel Score:
ENST00000354593
0.213
ENST00000336411
0.213
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025192 (NFE)
Genomes Max Group AF
0.00018207 (NFE)
Exomes Max Group AF
0.00025113 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99762206G>A , CM000669.2:g.99762206G>A | GRCh38 |
| NC_000007.13:g.99359829G>A , CM000669.1:g.99359829G>A | GRCh37 |
| NC_000007.12:g.99197765G>A | NCBI36 |
| NG_008421.1:g.26980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1088C>T | ENSP00000337915.3:p.Thr363Met | |
| ENST00000651162.1:n.523C>T | ||
| ENST00000651514.1:c.1088C>T MANE Select | ENSP00000498939.1:p.Thr363Met | |
| ENST00000651783.1:c.629C>T | ENSP00000498924.1:p.Thr210Met | |
| ENST00000652018.1:c.941C>T | ENSP00000498733.1:p.Thr314Met | |
| ENST00000336411.6:c.1088C>T | ENSP00000337915.2:p.Thr363Met | |
| ENST00000354593.6:c.638C>T | ENSP00000346607.2:p.Thr213Met | |
| NM_001202855.2:c.1085C>T | NP_001189784.1:p.Thr362Met | |
| NM_017460.5:c.1088C>T | NP_059488.2:p.Thr363Met | |
| XM_011515841.1:c.1088C>T | XP_011514143.1:p.Thr363Met | |
| XM_011515842.1:c.1085C>T | XP_011514144.1:p.Thr362Met | |
| NM_017460.6:c.1088C>T MANE Select | NP_059488.2:p.Thr363Met | |
| NM_001202855.3:c.1085C>T | NP_001189784.1:p.Thr362Met |