Revel Score:
ENST00000155840 (MANE Select)
0.940
ENST00000335475
0.940
gnomAD v4:
Joint Max Group AF
0.00000126 (NFE)
Exomes Max Group AF
0.00000134 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2776006C>T , CM000673.2:g.2776006C>T | GRCh38 |
| NC_000011.9:g.2797236C>T , CM000673.1:g.2797236C>T | GRCh37 |
| NC_000011.8:g.2753812C>T | NCBI36 |
| NG_008935.1:g.336016C>T , LRG_287:g.336016C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1280C>T | ENSP00000434560.2:p.Ser427Leu | |
| ENST00000646564.2:c.1097C>T | ENSP00000495806.2:p.Ser366Leu | |
| ENST00000155840.12:c.1637C>T MANE Select | ENSP00000155840.2:p.Ser546Leu | |
| ENST00000335475.6:c.1256C>T | ENSP00000334497.5:p.Ser419Leu | |
| ENST00000646564.1:c.743C>T | ENSP00000495806.1:p.Ser248Leu | |
| ENST00000155840.9:c.1637C>T | ENSP00000155840.2:p.Ser546Leu | |
| ENST00000335475.5:c.1256C>T | ENSP00000334497.5:p.Ser419Leu | |
| NM_000218.2:c.1637C>T , LRG_287t1:c.1637C>T | NP_000209.2:p.Ser546Leu | |
| NM_181798.1:c.1256C>T , LRG_287t2:c.1256C>T | NP_861463.1:p.Ser419Leu | |
| NM_000218.3:c.1637C>T MANE Select | NP_000209.2:p.Ser546Leu |