ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929018G>A , CM000663.2:g.42929018G>A | GRCh38 |
| NC_000001.10:g.43394689G>A , CM000663.1:g.43394689G>A | GRCh37 |
| NC_000001.9:g.43167276G>A | NCBI36 |
| NG_008232.1:g.35159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.988C>T MANE Select | ENSP00000416293.2:p.Arg330Ter | |
| ENST00000674545.1:n.482C>T | ||
| ENST00000674765.1:c.988C>T | ENSP00000501811.1:p.Arg330Ter | |
| ENST00000675112.1:n.1289C>T | ||
| ENST00000676254.1:n.1437C>T | ||
| ENST00000426263.7:c.988C>T | ENSP00000416293.2:p.Arg330Ter | |
| ENST00000475162.3:c.415+1608C>T | ||
| ENST00000630287.2:c.*303C>T | ENSP00000486694.1:n.*303C>T | |
| NM_006516.2:c.988C>T | NP_006507.2:p.Arg330Ter | |
| NM_006516.3:c.988C>T | NP_006507.2:p.Arg330Ter | |
| NM_006516.4:c.988C>T MANE Select | NP_006507.2:p.Arg330Ter |