Revel Score:
ENST00000380874
0.232
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1611710C>T , CM000668.2:g.1611710C>T | GRCh38 |
| NC_000006.11:g.1611945C>T , CM000668.1:g.1611945C>T | GRCh37 |
| NC_000006.10:g.1556944C>T | NCBI36 |
| NG_009368.1:g.6265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.1265C>T MANE Select | ENSP00000493906.1:p.Ser422Leu | |
| ENST00000380874.3:c.1265C>T | ENSP00000370256.2:p.Ser422Leu | |
| NM_001453.2:c.1265C>T | NP_001444.2:p.Ser422Leu | |
| NM_001453.3:c.1265C>T MANE Select | NP_001444.2:p.Ser422Leu |