Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77456368C>A , CM000685.2:g.77456368C>A | GRCh38 |
| NC_000023.10:g.76711859C>A , CM000685.1:g.76711859C>A | GRCh37 |
| NC_000023.9:g.76598515C>A | NCBI36 |
| NG_034050.1:g.13694C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003868.3:c.470C>A MANE Select | NP_003859.1:p.Ser157Ter |
| ENST00000439435.3:c.470C>A MANE Select | ENSP00000399324.2:p.Ser157Ter |
| NM_003868.2:c.470C>A | NP_003859.1:p.Ser157Ter |
| ENST00000439435.2:c.470C>A | ENSP00000399324.2:p.Ser157Ter |