ClinVar RCV:
ClinVar Variation:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17337640C>T , CM000681.2:g.17337640C>T | GRCh38 |
| NC_000019.9:g.17448449C>T , CM000681.1:g.17448449C>T | GRCh37 |
| NC_000019.8:g.17309449C>T | NCBI36 |
| NG_027824.1:g.7659C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324894.13:c.29C>T MANE Select | ENSP00000313818.7:p.Ala10Val | |
| ENST00000324894.12:c.29C>T | ENSP00000313818.7:p.Ala10Val | |
| ENST00000358792.11:c.29C>T | ENSP00000351644.6:p.Ala10Val | |
| ENST00000361619.9:c.120-368C>T | ENSP00000354598.4:n.120-368C>T | |
| ENST00000593297.5:n.18+64C>T | ||
| ENST00000594018.5:c.29C>T | ENSP00000471421.1:p.Ala10Val | |
| ENST00000594345.5:n.467-368C>T | ||
| ENST00000595951.1:n.431-234C>T | ||
| ENST00000596001.5:n.55C>T | ||
| ENST00000596166.5:n.82C>T | ||
| ENST00000596218.5:n.298-368C>T | ||
| ENST00000596941.5:n.163-368C>T | ||
| ENST00000598038.5:n.853+64C>T | ||
| ENST00000598493.5:c.29C>T | ENSP00000472156.1:p.Ala10Val | |
| ENST00000599329.1:n.23C>T | ||
| ENST00000599429.5:n.124C>T | ||
| ENST00000600610.5:c.29C>T | ENSP00000469008.1:p.Ala10Val | |
| ENST00000600625.5:c.29C>T | ENSP00000473150.1:p.Ala10Val | |
| ENST00000600995.5:n.308-368C>T | ||
| ENST00000601213.5:c.109-368C>T | ENSP00000471657.1:n.109-368C>T | |
| ENST00000601261.5:n.18+64C>T | ||
| ENST00000602165.1:c.29C>T | ENSP00000470109.1:p.Ala10Val | |
| NM_001128855.2:c.29C>T | NP_001122327.1:p.Ala10Val | |
| NM_001195422.1:c.120-368C>T | NP_001182351.1:n.120-368C>T | |
| NM_032620.3:c.29C>T | NP_116009.2:p.Ala10Val | |
| NM_133644.3:c.29C>T | NP_598399.2:p.Ala10Val | |
| NM_032620.4:c.29C>T MANE Select | NP_116009.2:p.Ala10Val | |
| NM_001128855.3:c.29C>T | NP_001122327.1:p.Ala10Val | |
| NM_133644.4:c.29C>T | NP_598399.2:p.Ala10Val |