Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54459064C>A , CM000670.2:g.54459064C>A | GRCh38 |
| NC_000008.10:g.55371624C>A , CM000670.1:g.55371624C>A | GRCh37 |
| NC_000008.9:g.55534177C>A | NCBI36 |
| NG_028171.1:g.6130C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022454.4:c.314C>A MANE Select | NP_071899.1:p.Ser105Ter |
| ENST00000297316.5:c.314C>A MANE Select | ENSP00000297316.4:p.Ser105Ter |
| NM_022454.3:c.314C>A | NP_071899.1:p.Ser105Ter |
| ENST00000297316.4:c.314C>A | ENSP00000297316.4:p.Ser105Ter |