COSMIC:
COSM1422939 (not active)
COSM1422940 (not active)
Revel Score:
ENST00000399220 (MANE Select)
0.293
ENST00000538756
0.293
ENST00000358309
0.293
ENST00000541347
0.293
ENST00000542107
0.293
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17201307 (NFE)
Genomes Max Group AF
0.16880391 (NFE)
Exomes Max Group AF
0.17206838 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39265671G>A , CM000665.2:g.39265671G>A | GRCh38 |
| NC_000003.11:g.39307162G>A , CM000665.1:g.39307162G>A | GRCh37 |
| NC_000003.10:g.39282166G>A | NCBI36 |
| NG_016362.1:g.21065C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399220.3:c.839C>T MANE Select | ENSP00000382166.3:p.Thr280Met | |
| ENST00000358309.3:c.935C>T | ENSP00000351059.3:p.Thr312Met | |
| ENST00000399220.2:c.839C>T | ENSP00000382166.2:p.Thr280Met | |
| ENST00000541347.5:c.839C>T | ENSP00000439140.1:p.Thr280Met | |
| ENST00000542107.5:c.839C>T | ENSP00000444928.1:p.Thr280Met | |
| NM_001171171.1:c.839C>T | NP_001164642.1:p.Thr280Met | |
| NM_001171172.1:c.839C>T | NP_001164643.1:p.Thr280Met | |
| NM_001171174.1:c.935C>T | NP_001164645.1:p.Thr312Met | |
| NM_001337.3:c.839C>T | NP_001328.1:p.Thr280Met | |
| NM_001337.4:c.839C>T MANE Select | NP_001328.1:p.Thr280Met | |
| NM_001171171.2:c.839C>T | NP_001164642.1:p.Thr280Met | |
| NM_001171172.2:c.839C>T | NP_001164643.1:p.Thr280Met |