Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259192G>A , CM000676.2:g.24259192G>A | GRCh38 |
| NC_000014.8:g.24728398G>A , CM000676.1:g.24728398G>A | GRCh37 |
| NC_000014.7:g.23798238G>A | NCBI36 |
| NG_007150.1:g.8975C>T | |
| NG_007150.2:g.8975C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000359.3:c.1042C>T MANE Select | NP_000350.1:p.Arg348Ter |
| ENST00000206765.11:c.1042C>T MANE Select | ENSP00000206765.6:p.Arg348Ter |
| NM_000359.2:c.1042C>T | NP_000350.1:p.Arg348Ter |
| ENST00000206765.10:c.1042C>T | ENSP00000206765.6:p.Arg348Ter |
| ENST00000544573.5:c.-28-804C>T | ENSP00000439446.1:n.-28-804C>T |
| ENST00000559136.1:c.115C>T | ENSP00000453337.1:p.Arg39Ter |