COSMIC:
COSM3766187 (not active)
Revel Score:
ENST00000250092 (MANE Select)
0.015
ENST00000380498
0.015
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10261049 (SAS)
Genomes Max Group AF
0.0990573 (SAS)
Exomes Max Group AF
0.10243407 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7581494G>A , CM000679.2:g.7581494G>A | GRCh38 |
| NC_000017.10:g.7484812G>A , CM000679.1:g.7484812G>A | GRCh37 |
| NC_000017.9:g.7425536G>A | NCBI36 |
| NG_009204.1:g.2848G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250092.11:c.1048G>A MANE Select | ENSP00000250092.6:p.Ala350Thr | |
| ENST00000250092.10:c.1048G>A | ENSP00000250092.6:p.Ala350Thr | |
| ENST00000380498.10:c.967G>A | ENSP00000369867.6:p.Ala323Thr | |
| ENST00000584180.1:c.763G>A | ||
| NM_001040059.1:c.967G>A | NP_001035148.1:p.Ala323Thr | |
| NM_001251.2:c.1048G>A | NP_001242.2:p.Ala350Thr | |
| NM_001251.3:c.1048G>A MANE Select | NP_001242.2:p.Ala350Thr | |
| NM_001040059.2:c.967G>A | NP_001035148.1:p.Ala323Thr |