COSMIC:
COSM146940 (not active)
Revel Score:
ENST00000263102 (MANE Select)
0.194
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60380266 (AMR)
Genomes Max Group AF
0.59150034 (EAS)
Exomes Max Group AF
0.62939838 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.59792934G>T , CM000672.2:g.59792934G>T | GRCh38 |
| NC_000010.10:g.61552692G>T , CM000672.1:g.61552692G>T | GRCh37 |
| NC_000010.9:g.61222698G>T | NCBI36 |
| NG_027819.1:g.118723C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263102.7:c.1408C>A MANE Select | ENSP00000263102.6:p.Pro470Thr | |
| ENST00000263102.6:c.1408C>A | ENSP00000263102.6:p.Pro470Thr | |
| ENST00000491922.1:n.1460C>A | ||
| NM_005436.4:c.1408C>A | NP_005427.2:p.Pro470Thr | |
| NM_005436.5:c.1408C>A MANE Select | NP_005427.2:p.Pro470Thr |