COSMIC:
COSM3760370 (not active)
COSM3760371 (not active)
Revel Score:
ENST00000394329 (MANE Select)
0.116
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56650098 (AFR)
Genomes Max Group AF
0.56079185 (AFR)
Exomes Max Group AF
0.56938782 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125318831C>T , CM000666.2:g.125318831C>T | GRCh38 |
| NC_000004.11:g.126239986C>T , CM000666.1:g.126239986C>T | GRCh37 |
| NC_000004.10:g.126459436C>T | NCBI36 |
| NG_033865.1:g.7420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.2420C>T MANE Select | ENSP00000377862.4:p.Ala807Val | |
| ENST00000674496.2:c.-55+2854C>T | ENSP00000501473.2:n.-55+2854C>T | |
| ENST00000678072.1:n.26C>T | ||
| ENST00000394329.7:c.2420C>T | ENSP00000377862.3:p.Ala807Val | |
| NM_001291285.1:c.2420C>T | NP_001278214.1:p.Ala807Val | |
| NM_001291303.1:c.2420C>T | NP_001278232.1:p.Ala807Val | |
| NM_024582.4:c.2420C>T | NP_078858.4:p.Ala807Val | |
| XM_011532236.1:c.2420C>T | XP_011530538.1:p.Ala807Val | |
| XM_011532237.1:c.-55+2854C>T | XP_011530539.1:n.-55+2854C>T | |
| XM_011532236.2:c.2420C>T | XP_011530538.1:p.Ala807Val | |
| XM_011532237.2:c.-55+2854C>T | XP_011530539.1:n.-55+2854C>T | |
| NM_001291285.2:c.2420C>T | NP_001278214.1:p.Ala807Val | |
| NM_001291303.3:c.2420C>T MANE Select | NP_001278232.1:p.Ala807Val | |
| NM_024582.5:c.2420C>T | NP_078858.4:p.Ala807Val | |
| NM_001291285.3:c.2420C>T | NP_001278214.1:p.Ala807Val | |
| NM_024582.6:c.2420C>T | NP_078858.4:p.Ala807Val |