Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77456433C>T , CM000685.2:g.77456433C>T | GRCh38 |
| NC_000023.10:g.76711924C>T , CM000685.1:g.76711924C>T | GRCh37 |
| NC_000023.9:g.76598580C>T | NCBI36 |
| NG_034050.1:g.13759C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003868.3:c.535C>T MANE Select | NP_003859.1:p.Arg179Ter |
| ENST00000439435.3:c.535C>T MANE Select | ENSP00000399324.2:p.Arg179Ter |
| NM_003868.2:c.535C>T | NP_003859.1:p.Arg179Ter |
| ENST00000439435.2:c.535C>T | ENSP00000399324.2:p.Arg179Ter |