COSMIC:
COSM1131100 (not active)
Revel Score:
ENST00000309042 (MANE Select)
0.009
ENST00000358605
0.009
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39126899 (EAS)
Genomes Max Group AF
0.38184341 (EAS)
Exomes Max Group AF
0.3909645 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56931248C>T , CM000666.2:g.56931248C>T | GRCh38 |
| NC_000004.11:g.57797414C>T , CM000666.1:g.57797414C>T | GRCh37 |
| NC_000004.10:g.57492171C>T | NCBI36 |
| NG_029447.1:g.28373C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309042.12:c.2390C>T MANE Select | ENSP00000311816.7:p.Pro797Leu | |
| ENST00000514063.2:c.*1417C>T | ENSP00000501649.1:n.*1417C>T | |
| ENST00000611211.2:c.*79-820C>T | ENSP00000479151.2:n.*79-820C>T | |
| ENST00000616975.5:c.*1417C>T | ENSP00000484058.1:n.*1417C>T | |
| ENST00000619101.5:c.*1417C>T | ENSP00000484836.2:n.*1417C>T | |
| ENST00000638187.2:c.2306C>T | ENSP00000492006.2:p.Pro769Leu | |
| ENST00000640168.2:c.898+19712C>T | ENSP00000490969.1:n.898+19712C>T | |
| ENST00000640343.2:c.982+11378C>T | ENSP00000492813.1:n.982+11378C>T | |
| ENST00000675105.1:c.2390C>T | ENSP00000502313.1:p.Pro797Leu | |
| ENST00000675341.1:c.1943C>T | ENSP00000502488.1:p.Pro648Leu | |
| ENST00000309042.11:c.2390C>T | ENSP00000311816.7:p.Pro797Leu | |
| ENST00000619101.4:c.2390C>T | ENSP00000484836.1:p.Pro797Leu | |
| ENST00000622863.4:c.587-546C>T | ENSP00000481650.1:n.587-546C>T | |
| NM_001193508.1:c.2390C>T | NP_001180437.1:p.Pro797Leu | |
| NM_005612.4:c.2390C>T | NP_005603.3:p.Pro797Leu | |
| XM_005265760.2:c.1424C>T | XP_005265817.1:p.Pro475Leu | |
| XM_011534401.1:c.2390C>T | XP_011532703.1:p.Pro797Leu | |
| XM_011534402.1:c.1412C>T | XP_011532704.1:p.Pro471Leu | |
| NM_001363453.1:c.2390C>T | NP_001350382.1:p.Pro797Leu | |
| XM_017008527.1:c.2306C>T | XP_016864016.1:p.Pro769Leu | |
| NM_005612.5:c.2390C>T MANE Select | NP_005603.3:p.Pro797Leu | |
| NM_001363453.2:c.2390C>T | NP_001350382.1:p.Pro797Leu |