COSMIC:
COSM4004075 (not active)
Revel Score:
ENST00000493422 (MANE Select)
0.007
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72117673 (AMR)
Genomes Max Group AF
0.68524233 (EAS)
Exomes Max Group AF
0.74007101 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52752933C>G , CM000668.2:g.52752933C>G | GRCh38 |
| NC_000006.11:g.52617731C>G , CM000668.1:g.52617731C>G | GRCh37 |
| NC_000006.10:g.52725690C>G | NCBI36 |
| NG_029430.1:g.15631G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493422.3:c.335G>C MANE Select | ENSP00000420168.1:p.Ser112Thr | |
| ENST00000493422.2:c.335G>C | ENSP00000420168.1:p.Ser112Thr | |
| NM_000846.4:c.335G>C | NP_000837.3:p.Ser112Thr | |
| XM_011514532.1:c.335G>C | XP_011512834.1:p.Ser112Thr | |
| XM_011514532.3:c.335G>C | XP_011512834.1:p.Ser112Thr | |
| NM_000846.5:c.335G>C MANE Select | NP_000837.3:p.Ser112Thr |