COSMIC:
COSM4159691 (not active)
Revel Score:
ENST00000408953 (MANE Select)
0.007
ENST00000523213
0.007
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11462554 (MID)
Genomes Max Group AF
0.09980105 (NFE)
Exomes Max Group AF
0.11576129 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.160393924C>A , CM000667.2:g.160393924C>A | GRCh38 |
| NC_000005.9:g.159820931C>A , CM000667.1:g.159820931C>A | GRCh37 |
| NC_000005.8:g.159753509C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408953.4:c.1567G>T MANE Select | ENSP00000386184.3:p.Ala523Ser | |
| ENST00000408953.3:c.1567G>T | ENSP00000386184.3:p.Ala523Ser | |
| ENST00000523213.1:c.1567G>T | ENSP00000428831.1:p.Ala523Ser | |
| NM_001303251.1:c.1567G>T | NP_001290180.1:p.Ala523Ser | |
| NM_022090.4:c.1567G>T | NP_071373.2:p.Ala523Ser | |
| NM_022090.5:c.1567G>T MANE Select | NP_071373.2:p.Ala523Ser | |
| NM_001303251.2:c.1567G>T | NP_001290180.1:p.Ala523Ser |