Revel Score:
ENST00000426263 (MANE Select)
0.942
ENST00000372501
0.942
ENST00000439722
0.942
ENST00000372500
0.942
gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930766G>A , CM000663.2:g.42930766G>A | GRCh38 |
| NC_000001.10:g.43396437G>A , CM000663.1:g.43396437G>A | GRCh37 |
| NC_000001.9:g.43169024G>A | NCBI36 |
| NG_008232.1:g.33411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.376C>T MANE Select | ENSP00000416293.2:p.Arg126Cys | |
| ENST00000674765.1:c.376C>T | ENSP00000501811.1:p.Arg126Cys | |
| ENST00000675112.1:n.399C>T | ||
| ENST00000676254.1:n.825C>T | ||
| ENST00000372500.4:c.280C>T | ENSP00000361578.4:p.Arg94Cys | |
| ENST00000426263.7:c.376C>T | ENSP00000416293.2:p.Arg126Cys | |
| ENST00000439722.2:c.255C>T | ENSP00000395521.2:n.255C>T | |
| ENST00000475162.3:c.275C>T | ||
| ENST00000625233.2:n.584C>T | ||
| ENST00000630287.2:c.376C>T | ENSP00000486694.1:p.Arg126Cys | |
| NM_006516.2:c.376C>T | NP_006507.2:p.Arg126Cys | |
| NM_006516.3:c.376C>T | NP_006507.2:p.Arg126Cys | |
| NM_006516.4:c.376C>T MANE Select | NP_006507.2:p.Arg126Cys |