Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52378622G>A , CM000675.2:g.52378622G>A | GRCh38 |
| NC_000013.10:g.52952757G>A , CM000675.1:g.52952757G>A | GRCh37 |
| NC_000013.9:g.51850758G>A | NCBI36 |
| NG_047168.1:g.32873C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018676.4:c.1348C>T MANE Select | NP_061146.1:p.Arg450Ter |
| ENST00000258613.5:c.1348C>T MANE Select | ENSP00000258613.4:p.Arg450Ter |
| NM_018676.3:c.1348C>T | NP_061146.1:p.Arg450Ter |
| NM_199263.2:c.1189C>T | NP_954872.1:p.Arg397Ter |
| NM_199263.3:c.1189C>T | NP_954872.1:p.Arg397Ter |
| ENST00000258613.4:c.1348C>T | ENSP00000258613.4:p.Arg450Ter |
| ENST00000349258.8:c.1189C>T | ENSP00000340650.4:p.Arg397Ter |
| ENST00000648254.1:c.1189C>T | ENSP00000497520.1:p.Arg397Ter |