COSMIC:
COSM5383436 (not active)
Revel Score:
ENST00000316623 (MANE Select)
0.821
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009058 (NFE)
Genomes Max Group AF
0.00004764 (NFE)
Exomes Max Group AF
0.00009028 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48421597G>A , CM000677.2:g.48421597G>A | GRCh38 |
| NC_000015.9:g.48713794G>A , CM000677.1:g.48713794G>A | GRCh37 |
| NC_000015.8:g.46501086G>A | NCBI36 |
| NG_008805.2:g.229192C>T , LRG_778:g.229192C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*468C>T | ENSP00000453958.2:n.*468C>T | |
| ENST00000674301.2:c.*1173C>T | ENSP00000501333.2:n.*1173C>T | |
| ENST00000682170.1:n.1841C>T | ||
| ENST00000682767.1:n.957C>T | ||
| ENST00000316623.10:c.7660C>T MANE Select | ENSP00000325527.5:p.Arg2554Trp | |
| ENST00000674301.1:c.2826C>T | ENSP00000501333.1:n.2826C>T | |
| ENST00000316623.9:c.7660C>T | ENSP00000325527.5:p.Arg2554Trp | |
| ENST00000559133.5:c.3029C>T | ||
| NM_000138.4:c.7660C>T , LRG_778t1:c.7660C>T | NP_000129.3:p.Arg2554Trp | |
| NM_000138.5:c.7660C>T MANE Select | NP_000129.3:p.Arg2554Trp |