COSMIC:
COSM4985191 (not active)
Revel Score:
ENST00000344887 (MANE Select)
0.760
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02159458 (AFR)
Genomes Max Group AF
0.02124016 (AFR)
Exomes Max Group AF
0.02122138 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156239G>A , CM000681.2:g.55156239G>A | GRCh38 |
| NC_000019.9:g.55667607G>A , CM000681.1:g.55667607G>A | GRCh37 |
| NC_000019.8:g.60359419G>A | NCBI36 |
| NG_007866.2:g.6494C>T , LRG_432:g.6494C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.244C>T MANE Select | ENSP00000341838.5:p.Pro82Ser | |
| ENST00000665070.1:c.244C>T | ENSP00000499482.1:p.Pro82Ser | |
| ENST00000344887.9:c.244C>T | ENSP00000341838.5:p.Pro82Ser | |
| ENST00000585806.5:n.243C>T | ||
| ENST00000586669.5:n.252C>T | ||
| ENST00000587176.5:n.428C>T | ||
| ENST00000587871.1:c.863C>T | ||
| ENST00000588882.1:c.169C>T | ENSP00000466729.1:p.Pro57Ser | |
| ENST00000590463.1:n.416C>T | ||
| NM_000363.4:c.244C>T , LRG_432t1:c.244C>T | NP_000354.4:p.Pro82Ser | |
| NM_000363.5:c.244C>T MANE Select | NP_000354.4:p.Pro82Ser |