Revel Score:
ENST00000426263 (MANE Select)
0.821
ENST00000372501
0.821
ENST00000397019
0.821
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927685G>A , CM000663.2:g.42927685G>A | GRCh38 |
| NC_000001.10:g.43393356G>A , CM000663.1:g.43393356G>A | GRCh37 |
| NC_000001.9:g.43165943G>A | NCBI36 |
| NG_008232.1:g.36492C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1198C>T MANE Select | ENSP00000416293.2:p.Arg400Cys | |
| ENST00000674545.1:n.1815C>T | ||
| ENST00000674765.1:c.1030-828C>T | ENSP00000501811.1:n.1030-828C>T | |
| ENST00000675112.1:n.1499C>T | ||
| ENST00000676254.1:n.1647C>T | ||
| ENST00000426263.7:c.1198C>T | ENSP00000416293.2:p.Arg400Cys | |
| ENST00000475162.3:c.416-707C>T | ||
| ENST00000630287.2:c.*513C>T | ENSP00000486694.1:n.*513C>T | |
| NM_006516.2:c.1198C>T | NP_006507.2:p.Arg400Cys | |
| NM_006516.3:c.1198C>T | NP_006507.2:p.Arg400Cys | |
| NM_006516.4:c.1198C>T MANE Select | NP_006507.2:p.Arg400Cys |