COSMIC:
COSM5356760 (not active)
COSM5356761 (not active)
Revel Score:
ENST00000394307
0.019
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00973671 (SAS)
Genomes Max Group AF
0.00975014 (SAS)
Exomes Max Group AF
0.00961482 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150054189A>G , CM000667.2:g.150054189A>G | GRCh38 |
| NC_000005.9:g.149433752A>G , CM000667.1:g.149433752A>G | GRCh37 |
| NC_000005.8:g.149413945A>G | NCBI36 |
| NG_012303.1:g.64184T>C | |
| NG_021389.1:g.58584A>G | |
| NG_012303.2:g.64184T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675795.1:c.2799T>C MANE Select | ENSP00000501699.1:p.Gly933= | |
| ENST00000286301.7:c.2799T>C | ENSP00000286301.3:p.Gly933= | |
| ENST00000504875.5:c.*620T>C | ENSP00000422212.1:n.*620T>C | |
| ENST00000509861.1:n.535T>C | ||
| NM_001288705.1:c.2799T>C | NP_001275634.1:p.Gly933= | |
| NM_005211.3:c.2799T>C | NP_005202.2:p.Gly933= | |
| NR_109969.1:n.2849T>C | ||
| NM_001288705.2:c.2799T>C | NP_001275634.1:p.Gly933= | |
| NM_001349736.1:c.2799T>C | NP_001336665.1:p.Gly933= | |
| NM_001288705.3:c.2799T>C MANE Select | NP_001275634.1:p.Gly933= | |
| NM_001375320.1:c.2799T>C | NP_001362249.1:p.Gly933= | |
| NM_001375321.1:c.2355T>C | NP_001362250.1:p.Gly785= | |
| NR_164679.1:n.2692T>C | ||
| NM_001349736.2:c.2799T>C | NP_001336665.1:p.Gly933= | |
| NM_005211.4:c.2799T>C | NP_005202.2:p.Gly933= | |
| NR_109969.2:n.2763T>C |