Revel Score:
ENST00000379802 (MANE Select)
0.790
ENST00000418664
0.790
ENST00000397483
0.790
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00036832 (EAS)
Genomes Max Group AF
0.00015695 (EAS)
Exomes Max Group AF
0.0003546 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7566380C>T , CM000668.2:g.7566380C>T | GRCh38 |
| NC_000006.11:g.7566613C>T , CM000668.1:g.7566613C>T | GRCh37 |
| NC_000006.10:g.7511612C>T | NCBI36 |
| NG_008803.1:g.29744C>T , LRG_423:g.29744C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.943C>T | ENSP00000518230.1:p.Arg315Cys | |
| ENST00000682228.1:n.267C>T | ||
| ENST00000379802.8:c.943C>T MANE Select | ENSP00000369129.3:p.Arg315Cys | |
| ENST00000379802.7:c.943C>T | ENSP00000369129.3:p.Arg315Cys | |
| ENST00000418664.2:c.943C>T | ENSP00000396591.2:p.Arg315Cys | |
| NM_001008844.1:c.943C>T | NP_001008844.1:p.Arg315Cys | |
| NM_004415.2:c.943C>T , LRG_423t1:c.943C>T | NP_004406.2:p.Arg315Cys | |
| XM_011514323.1:c.943C>T | XP_011512625.1:p.Arg315Cys | |
| NM_001008844.2:c.943C>T | NP_001008844.1:p.Arg315Cys | |
| NM_001319034.1:c.943C>T | NP_001305963.1:p.Arg315Cys | |
| NM_004415.3:c.943C>T | NP_004406.2:p.Arg315Cys | |
| NM_004415.4:c.943C>T MANE Select | NP_004406.2:p.Arg315Cys | |
| NM_001008844.3:c.943C>T | NP_001008844.1:p.Arg315Cys | |
| NM_001319034.2:c.943C>T | NP_001305963.1:p.Arg315Cys |