ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30646814C>T , CM000684.2:g.30646814C>T | GRCh38 |
| NC_000022.10:g.31042801C>T , CM000684.1:g.31042801C>T | GRCh37 |
| NC_000022.9:g.29372801C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343605.5:c.836C>T MANE Select | ENSP00000339626.4:p.Thr279Ile | |
| ENST00000343605.4:c.836C>T | ENSP00000339626.4:p.Thr279Ile | |
| ENST00000406566.1:c.620-2346C>T | ENSP00000384377.1:n.620-2346C>T | |
| ENST00000451479.1:c.547+9745C>T | ENSP00000413552.1:n.547+9745C>T | |
| NM_001001479.2:c.836C>T | NP_001001479.1:p.Thr279Ile | |
| NM_001001479.3:c.836C>T | NP_001001479.1:p.Thr279Ile | |
| NM_001318370.1:c.620-2346C>T | NP_001305299.1:n.620-2346C>T | |
| NM_001318371.1:c.619+9745C>T | NP_001305300.1:n.619+9745C>T | |
| XM_017028794.1:c.836C>T | XP_016884283.1:p.Thr279Ile | |
| XM_017028795.1:c.836C>T | XP_016884284.1:p.Thr279Ile | |
| NM_001001479.4:c.836C>T MANE Select | NP_001001479.1:p.Thr279Ile | |
| NM_001318371.2:c.619+9745C>T | NP_001305300.1:n.619+9745C>T | |
| NM_001318370.2:c.620-2346C>T | NP_001305299.1:n.620-2346C>T |