ClinVar Variation:
COSMIC:
COSM5146056
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002988 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00002743 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154734G>A , CM000681.2:g.55154734G>A | GRCh38 |
| NC_000019.9:g.55666102G>A , CM000681.1:g.55666102G>A | GRCh37 |
| NC_000019.8:g.60357914G>A | NCBI36 |
| NG_007866.2:g.7999C>T , LRG_432:g.7999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.372+7C>T MANE Select | ENSP00000341838.5:n.372+7C>T | |
| ENST00000665070.1:c.379C>T | ENSP00000499482.1:p.Arg127Cys | |
| ENST00000344887.9:c.372+7C>T | ENSP00000341838.5:n.372+7C>T | |
| ENST00000585806.5:n.371+7C>T | ||
| ENST00000586669.5:n.380+7C>T | ||
| ENST00000587176.5:n.563C>T | ||
| ENST00000588882.1:c.297+7C>T | ENSP00000466729.1:n.297+7C>T | |
| NM_000363.4:c.372+7C>T , LRG_432t1:c.372+7C>T | NP_000354.4:n.372+7C>T | |
| NM_000363.5:c.372+7C>T MANE Select | NP_000354.4:n.372+7C>T |