Revel Score:
ENST00000256474 (MANE Select)
0.620
ENST00000345392
0.620
ENST00000450183
0.620
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Genomes Max Group AF
0.00002264 (AMR)
Exomes Max Group AF
0.00000835 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149871C>T , CM000665.2:g.10149871C>T | GRCh38 |
| NC_000003.11:g.10191555C>T , CM000665.1:g.10191555C>T | GRCh37 |
| NC_000003.10:g.10166555C>T | NCBI36 |
| NG_008212.3:g.13237C>T , LRG_322:g.13237C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*225C>T | ENSP00000512434.1:n.*225C>T | |
| ENST00000696143.1:c.684C>T | ENSP00000512435.1:n.684C>T | |
| ENST00000696153.1:c.659C>T | ENSP00000512444.1:p.Ser220Leu | |
| ENST00000256474.3:c.548C>T MANE Select | ENSP00000256474.3:p.Ser183Leu | |
| ENST00000256474.2:c.548C>T | ENSP00000256474.2:p.Ser183Leu | |
| ENST00000345392.2:c.425C>T | ENSP00000344757.2:p.Ser142Leu | |
| ENST00000477538.1:n.684C>T | ||
| NM_000551.3:c.548C>T , LRG_322t1:c.548C>T | NP_000542.1:p.Ser183Leu | |
| NM_198156.2:c.425C>T | NP_937799.1:p.Ser142Leu | |
| NM_001354723.1:c.*102C>T | NP_001341652.1:n.*102C>T | |
| NM_000551.4:c.548C>T MANE Select | NP_000542.1:p.Ser183Leu | |
| NM_001354723.2:c.*102C>T | NP_001341652.1:n.*102C>T | |
| NM_198156.3:c.425C>T | NP_937799.1:p.Ser142Leu |